A Síndrome de Rothmund-Thomson (SRT) é uma doença genética de pele que se manifesta com uma mancha característica no rosto, com áreas avermelhadas e descoloridas (conhecida como poiquilodermia). Ela vem acompanhada de baixa estatura, causada por um atraso no crescimento antes e depois do nascimento. Também se observa cabelo ralo na cabeça, poucos ou nenhum cílio e/ou sobrancelha, catarata que aparece na infância, alterações nos ossos, problemas nos ossos do antebraço e da mão, envelhecimento precoce e uma maior chance de desenvolver alguns tipos de câncer.
Introdução
O que você precisa saber de cara
A Síndrome de Rothmund-Thomson (SRT) é uma doença genética de pele que se manifesta com uma mancha característica no rosto, com áreas avermelhadas e descoloridas (conhecida como poiquilodermia). Ela vem acompanhada de baixa estatura, causada por um atraso no crescimento antes e depois do nascimento. Também se observa cabelo ralo na cabeça, poucos ou nenhum cílio e/ou sobrancelha, catarata que aparece na infância, alterações nos ossos, problemas nos ossos do antebraço e da mão, envelhecimento precoce e uma maior chance de desenvolver alguns tipos de câncer.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 46 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 177 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle (PubMed:18485873). The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (PubMed:18485873). The APC/C comple
Rothmund-Thomson syndrome 1
A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS1 is an autosomal recessive form not associated with an increased risk of cancer.
An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction (PubMed:28653661). Does not unwind more than 18 bp of dsDNA (PubMed:28653661). May modulate chromosome segregation. The N-terminal domain (residues 1-54) binds DNA Y-shaped DNA better than ss- or dsDNA (PubMed:22730300). The core helicase domain binds ssDNA (PubMed:22730300, PubMed:28653661)
CytoplasmNucleus
RAPADILINO syndrome
Disease characterized by radial and patellar aplasia or hypoplasia.
Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double-strand break (DSB) repair: recruited by BLM and mediates the cleavage o
NucleusMitochondrion
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
A disorder characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression.
As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses (By similarity)
CytoplasmSynapseCell projection, dendritic spine
Rothmund-Thomson syndrome 3
A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS3 is an autosomal recessive form. RTS3 patients also exhibit microcephaly, with moderate to severe neurodevelopmental delay and seizures.
Variantes genéticas (ClinVar)
855 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 323 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
35 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Rothmund-Thomson
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Outros ensaios clínicos
2 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant.
This case report presents two Ecuadorian patients with Rothmund-Thomson syndrome type 2 (RTS2), an autosomal recessive disorder, who share a RECQL4 variant previously identified in another Ecuadorian patient, supporting the recurrent presence of this variant in the Ecuador population. Additionally, in the Case 2 patient with a suspected compound heterozygosity, a second pathogenic variant was identified that had not been previously reported in Ecuador. These findings underscore the importance of molecular diagnosis for accurate classification of RTS2, informed risk assessment, and improved clinical care, particularly in underrepresented populations.
Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.
Osteosarcoma is a highly malignant bone tumor, and a subset of cases is closely associated with hereditary syndromes. These syndrome-related osteosarcomas exhibit unique clinical features, molecular mechanisms, and therapeutic challenges. This review summarizes the current understanding of specific types of syndrome-related osteosarcomas, including those associated with Rothmund-Thomson syndrome, Li-Fraumeni syndrome, secondary osteosarcoma in retinoblastoma survivors, Werner syndrome, and Bloom syndrome. These syndromes are typically characterized by specific gene mutations or chromosomal instability, significantly increasing the risk of osteosarcoma development. However, the rarity and heterogeneity of syndrome-related osteosarcomas pose significant challenges for diagnosis and treatment, including difficulties in early detection, incomplete elucidation of molecular mechanisms, and limitations of conventional therapeutic approaches. This article aims to systematically review the clinical characteristics, molecular mechanisms, and therapeutic challenges of these syndromes, providing a comprehensive reference for clinicians and directions for future research.
Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.
RECQL4, a RecQ family helicase, is essential for DNA replication and genome stability. Mutations in RECQL4 cause severe human disorders yet we do not fully understand its functions, particularly regarding ATP-dependent helicase activity. To understand RECQL4's functions further, we performed a genome-wide forward genetic screen using a murine model harbouring patient-like RECQL4 mutations. We identify KLHDC3, a substrate-binding subunit of the Cullin-RING ligase E3 complex, loss as the most significant rescue allele. KLHDC3 loss restores proliferation and replication in RECQL4-deficient cells by stabilizing trace levels of a truncated RECQL4 fragment containing the N-terminal 480 amino acids, lacking the helicase and C-terminal regions. This RECQL4 fragment forms after Cre-mediated recombination of the Recql4fl allele and contains a neo-degron sequence specific for KLHDC3. Although this mechanism does not apply to human mutations, it demonstrates that minimal RECQL4 levels, without any ATPase domain/activity, are sufficient to support DNA replication. This demonstrates that RECQL4 is an essential and non-redundant regulator of DNA replication and cell viability and that this activity does not require its ATP-dependent helicase activity.
Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.
Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by poikiloderma, growth retardation, juvenile cataracts, congenital anomalies, and skeletal defects. Rothmund-Thomson syndrome type 2 is caused by biallelic mutations in the RECQL4 gene, leading to DNA repair deficiency and cancer predisposition.We report six pediatric patients from three unrelated families carrying the same pathogenic variant associated with Rothmund-Thomson syndrome type 2. All patients exhibited poikiloderma, facial telangiectasia, skin atrophy, growth retardation, microcephaly, and learning difficulties. Trunk was spared. One patient had hearing loss; another was diagnosed after the appearance of facial lesions, following chronic diarrhea and malnutrition. Osteopenia and metaphyseal growth lines were common on radiographs. Rothmund-Thomson syndrome was diagnosed based on clinical and radiological features. RECQL4 sequencing revealed a homozygous pathogenic c.2415_2419del (p.Gly806_Arg807delinsTer) variant in four patients, and compound heterozygosity with the same variant and a novel pathogenic c.1663_1664del (p.Ser555GlyfsTer27) variant in two siblings.Rare DNA repair disorders should be considered in the differential diagnosis of genodermatoses, especially when accompanied by growth retardation and microcephaly. Our findings highlight the value of combining dermatological, radiological, and molecular assessments for accurate diagnosis and counseling. The recurrence of the same variant in unrelated families from one region suggests a founder effect. Das Rothmund-Thomson-Syndrom (RTS) ist eine seltene autosomal-rezessive Genodermatose, gekennzeichnet durch Poikilodermie, Wachstumsverzögerung, juvenile Katarakte, kongenitale Fehlbildungen und skelettale Anomalien. RTS Typ 2 entsteht durch biallelische Mutationen im RECQL4-Gen, was zu DNA-Reparaturdefekten und Tumorprädisposition führt.Wir berichten über sechs Kinder aus drei nicht verwandten Familien mit derselben pathogenen RECQL4-Variante, assoziiert mit RTS Typ 2. Alle Patienten zeigten Poikilodermie, faziale Teleangiektasien, Hautatrophie, Wachstumsverzögerung, Mikrozephalie und Lernschwierigkeiten. Der Rumpf war ausgespart. Ein Patient hatte eine Hörminderung; ein anderer wurde nach dem Auftreten typischer Gesichtsläsionen diagnostiziert, zuvor bestand chronische Diarrhoe und Mangelernährung. Osteopenie und Metaphysenbandzeichnungen waren häufige Röntgenbefunde. Die RTS-Diagnose erfolgte anhand klinischer und radiologischer Merkmale.Die RECQL4-Sequenzierung zeigte bei vier Patienten eine homozygote pathogene Variante c.2415_2419del (p.Gly806_Arg807delinsTer), bei zwei Geschwistern eine kombinierte Heterozygotie mit derselben und einer neuen pathogenen Variante c.1663_1664del (p.Ser555GlyfsTer27).Seltene DNA-Reparaturdefekte sollten bei der Differenzialdiagnose von Genodermatosen berücksichtigt werden, besonders bei gleichzeitiger Wachstumsverzögerung und Mikrozephalie. Unsere Ergebnisse betonen den Wert kombinierter dermatologischer, radiologischer und molekulargenetischer Untersuchungen für eine präzise Diagnose und Beratung. Das wiederholte Auftreten derselben Variante bei nicht verwandten Familien spricht für einen Gründereffekt.
RECQ4-MUS81 interaction contributes to telomere maintenance with implications to Rothmund-Thomson syndrome.
Replication stress, particularly in hard-to-replicate regions such as telomeres and centromeres, leads to the accumulation of replication intermediates that must be processed to ensure proper chromosome segregation. In this study, we identify a critical role for the interaction between RECQ4 and MUS81 in managing such stress. We show that RECQ4 physically interacts with MUS81, targeting it to specific DNA substrates and enhancing its endonuclease activity. Loss of this interaction, results in significant chromosomal segregation defects, including the accumulation of micronuclei, anaphase bridges, and ultrafine bridges (UFBs). Our data further demonstrate that the RECQ4-MUS81 interaction plays an important role in ALT-positive cells, where MUS81 foci primarily colocalise with telomeres, highlighting its role in telomere maintenance. We also observe that a mutation associated with Rothmund-Thomson syndrome, which produces a truncated RECQ4 unable to interact with MUS81, recapitulates these chromosome instability phenotypes. This underscores the importance of RECQ4-MUS81 in safeguarding genome integrity and suggests potential implications for human disease. Our findings demonstrate the RECQ4-MUS81 interaction as a key mechanism in alleviating replication stress at hard-to-replicate regions and highlight its relevance in pathological conditions such as RTS.
Publicações recentes
Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.
Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant.
Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.
Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.
Anesthetic Management of a Child With Rothmund-Thomson Syndrome for Major Orthopedic Surgery.
📚 EuropePMC254 artigos no totalmostrando 126
Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.
EMBO reportsCase Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant.
Frontiers in pediatricsUnraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.
Orphanet journal of rare diseasesClinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.
Klinische PadiatrieAnesthetic Management of a Child With Rothmund-Thomson Syndrome for Major Orthopedic Surgery.
CureusDNA repair helicases: from mechanistic understanding to therapeutic implications.
NAR cancerUnilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage, and vascular defects.
G3 (Bethesda, Md.)An overview of RecQ helicases and related diseases.
AgingUndiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 -Related Rothmund-Thomson Syndrome.
American journal of medical genetics. Part ARegression of Monosomy 7 Clone in Patient With RECQL4-Associated Syndrome.
American journal of hematologyRothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.
American journal of medical genetics. Part ARECQL4-related Rothmund-Thomson syndrome: A case series and literature review.
Cancer geneticsMolecular insights into genodermatoses: Genetic findings from 43 patients.
Archives of dermatological researchRECQ4-MUS81 interaction contributes to telomere maintenance with implications to Rothmund-Thomson syndrome.
Nature communicationsRECQL4 requires PARP1 for recruitment to DNA damage, and PARG dePARylation facilitates its associated role in end joining.
Experimental & molecular medicineSevere Phenotype With RECQL4 Syndrome: A Report of Two Cases.
American journal of medical genetics. Part AAtypical presentations of RECQL4-related syndromes.
Pediatric blood & cancerInterdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes.
International journal of molecular sciencesUpdate on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.
Clinical cancer research : an official journal of the American Association for Cancer ResearchA family with nine siblings showing signs of Rothmund-Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N-terminal mutation of RECQL4.
Clinical case reportsSkin cancer-associated genodermatoses in skin of color patients: a review.
Archives of dermatological researchDONSON: Slding in 2 the limelight.
DNA repairA Chinese patient with Rothmund-Thomson syndrome.
Molecular genetics & genomic medicineRothmund-Thomson syndrome, a disorder far from solved.
Frontiers in agingHyperubiquitylation of DNA helicase RECQL4 by E3 ligase MITOL prevents mitochondrial entry and potentiates mitophagy.
The Journal of biological chemistryDe novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants.
Blood science (Baltimore, Md.)Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
Journal of medical geneticsBiallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Genetics in medicine : official journal of the American College of Medical GeneticsDNA replication initiation factor RECQ4 possesses a role in antagonizing DNA replication initiation.
Nature communicationsGermline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling.
International journal of molecular sciencesExtensive blaschkoid macules and patches since birth.
JAAD case reportsPrecocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.
American journal of medical genetics. Part AA case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.
Familial cancerRothmund-Thomson syndrome investigated by two nationwide surveys in Japan.
Pediatrics international : official journal of the Japan Pediatric SocietyCancer risk among RECQL4 heterozygotes.
Cancer geneticsRothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico.
Boletin medico del Hospital Infantil de MexicoPatient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.
PLoS genetics[Analysis of RECQL4 gene variant in a child with Rothmund-Thomson syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMolecular Mechanisms of the RECQ4 Pathogenic Mutations.
Frontiers in molecular biosciencesClinical approach to a child with poikiloderma: A case report.
Clinical case reports[Rothmund-Thomson syndrome].
Nihon Ronen Igakkai zasshi. Japanese journal of geriatricsHuman RecQL4 as a Novel Molecular Target for Cancer Therapy.
Cytogenetic and genome researchStable maintenance of the Mre11-Rad50-Nbs1 complex is sufficient to restore the DNA double-strand break response in cells lacking RecQL4 helicase activity.
The Journal of biological chemistryType I Interferon Induction in Cutaneous DNA Damage Syndromes.
Frontiers in immunologySpontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition.
Genetics and molecular biologyNovel pathogenic variants in the RECQL4 gene causing Rothmund-Thomson syndrome in three Chinese patients.
The Journal of dermatologyN-terminal region of RecQ4 inhibits non-homologous end joining and chromatin association of the Ku heterodimer in Xenopus egg extracts.
GeneInherited skin disorders presenting with poikiloderma.
International journal of dermatologyHuman RecQ Helicases in DNA Double-Strand Break Repair.
Frontiers in cell and developmental biologyPregnancy in a patient with Rothmund-Thomson type 2 syndrome.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsRothmund-Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations.
Skin health and diseaseCongenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
International journal of molecular sciencesFailure of Viral-Specific T Cells Administered in Pre-transplant Settings in Children with Inborn Errors of Immunity.
Journal of clinical immunologyRare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome.
CureusRothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a Haploinsufficient Low-Bone-Mass Phenotype in Mice.
Molecular and cellular biologySkin Abnormalities in Disorders with DNA Repair Defects, Premature Aging, and Mitochondrial Dysfunction.
The Journal of investigative dermatologySomatic and germline analysis of a familial Rothmund-Thomson syndrome in two siblings with osteosarcoma.
NPJ genomic medicineA rare case of meibomian gland dysgenesis in Rothmund-Thomson syndrome.
Journal francais d'ophtalmologieSynthetic Lethal Interactions of RECQ Helicases.
Trends in cancerWhen Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia.
Clinical dysmorphologySecond Osteosarcoma in a 16-Year-old Woman Diagnosed With Rothmund-Thomson Syndrome.
Journal of pediatric hematology/oncologyRECQ DNA Helicases and Osteosarcoma.
Advances in experimental medicine and biologyHuman Papillomavirus-induced Cutaneous and Mucosal Lesions in a Patient with Rothmund-Thomson Syndrome.
Acta dermato-venereologicaRare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene.
Anais brasileiros de dermatologiaMalar rash in a young child with neurodevelopmental delay: a quiz.
Archives of disease in childhood. Education and practice editionInteraction between RECQL4 and OGG1 promotes repair of oxidative base lesion 8-oxoG and is regulated by SIRT1 deacetylase.
Nucleic acids researchiPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS.
Stem cell researchFunctional conservation of RecQ helicase BLM between humans and Drosophila melanogaster.
Scientific reportsEnrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Cold Spring Harbor molecular case studiesHuman RECQL4 represses the RAD52-mediated single-strand annealing pathway after ionizing radiation or cisplatin treatment.
International journal of cancerHistopathologic features of Rothmund-Thomson syndrome.
JAAD case reportsReport of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome.
Journal of pediatric geneticsMutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
American journal of human geneticsATP-dependent helicase activity is dispensable for the physiological functions of Recql4.
PLoS geneticsMutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis.
Acta dermato-venereologicaRothmund-Thomson syndrome type 2 - a rare cause of chronic wounds.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGChromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund-Thomson syndrome.
Life science allianceSkin Cancer Associated Genodermatoses: A Literature Review.
Acta dermato-venereologicaATM activation is impaired in human cells defective in RecQL4 helicase activity.
Biochemical and biophysical research communicationsGastrointestinal Malignancy Presenting with a Virchow's Node in a Patient with Rothmund-Thomson Syndrome.
Case reports in geneticsXeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case.
JPMA. The Journal of the Pakistan Medical AssociationGeneration of an induced pluripotent stem cell line from an individual with a heterozygous RECQL4 mutation.
Stem cell researchRecQL4-Aurora B kinase axis is essential for cellular proliferation, cell cycle progression, and mitotic integrity.
OncogenesisFour novel RECQL4 mutations in four Chinese patients with Rothmund-Thomson syndrome and analysis of RECQL4 mRNA expression level in one typical patient.
Journal of dermatological scienceRECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.
Mechanisms of ageing and developmentRothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
International journal of molecular sciencesManagement of a granulomatous lesion in a patient with Kindler's Syndrome.
Journal of Indian Society of PeriodontologyNovel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.
GeneRothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation.
BMJ case reportsCell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair.
Nature communicationsPili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4.
Journal of the European Academy of Dermatology and Venereology : JEADVDNA replication timing alterations identify common markers between distinct progeroid diseases.
Proceedings of the National Academy of Sciences of the United States of AmericaHuman RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.
Cancer lettersOphthalmic manifestations in Rothmund-Thomson syndrome: Case report and review of literature.
Indian journal of ophthalmologyTumor Syndromes That Include Bone Tumors: An Update.
Surgical pathology clinicsRecommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Clinical cancer research : an official journal of the American Association for Cancer ResearchGeneralized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.
Human molecular geneticsRare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings.
JAAD case reports[Hereditary bone tumors].
Der PathologeExpanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma.
JAAD case reportsA helical bundle in the N-terminal domain of the BLM helicase mediates dimer and potentially hexamer formation.
The Journal of biological chemistryRibosomal Protein S3 Negatively Regulates Unwinding Activity of RecQ-like Helicase 4 through Their Physical Interaction.
The Journal of biological chemistryRothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.
European journal of pediatricsHuman RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.
Human mutationNeurodegeneration in accelerated aging.
Danish medical journalA rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome.
Journal of the European Academy of Dermatology and Venereology : JEADVUnderstanding photodermatoses associated with defective DNA repair: Syndromes with cancer predisposition.
Journal of the American Academy of DermatologyRothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature.
Arquivos brasileiros de oftalmologiaRECQL4 Promotes DNA End Resection in Repair of DNA Double-Strand Breaks.
Cell reportsClinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome.
Contemporary clinical dentistryAging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.
Ageing research reviewsRothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Molecular genetics & genomic medicineBloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases.
Ageing research reviewsMitochondrial functions of RECQL4 are required for the prevention of aerobic glycolysis-dependent cell invasion.
Journal of cell scienceOcular manifestations of genetic skin disorders.
Clinics in dermatologyFamilial skin cancer syndromes: Increased risk of nonmelanotic skin cancers and extracutaneous tumors.
Journal of the American Academy of DermatologyRECQL4 helicase has oncogenic potential in sporadic breast cancers.
The Journal of pathologyMultiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome.
Case reports in medicineLeg ulcer in a patient with Rothmund-Thomson syndrome.
SpringerPlusDental management of Rothmund-Thomson syndrome with partial anodontia.
BMJ case reportsThe DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation.
PLoS geneticsPlasmodium falciparum Werner homologue is a nuclear protein and its biochemical activities reside in the N-terminal region.
ProtoplasmaRothmund - Thomson syndrome with bronchiectasis: an uncommon phenotype?
Indian journal of dermatology, venereology and leprologyRECQL4 Regulates p53 Function In Vivo During Skeletogenesis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchRecQ helicases and PARP1 team up in maintaining genome integrity.
Ageing research reviewsOsteosarcoma in patients with Rothmund-Thomson syndrome.
Pediatric hematology and oncologyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant.
- Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.
- Minute amounts of helicase-deficient truncated RECQL4 are sufficient for DNA replication.
- Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.
- RECQ4-MUS81 interaction contributes to telomere maintenance with implications to Rothmund-Thomson syndrome.
- Anesthetic Management of a Child With Rothmund-Thomson Syndrome for Major Orthopedic Surgery.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2909(Orphanet)
- MONDO:0010002(MONDO)
- GARD:4392(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1583485(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
