[This corrects the article DOI: 10.1016/j.bbrep.2025.102298.].

Coxsackie and adenovirus receptor-like membrane protein (CLMP) mutation is identified as a genetic risk factor of congenital short bowel syndrome (CSBS). However, the specific pathogenic mechanism remains unclear. This study aimed to explore the clinical manifestations, genetic characteristics, and molecular mechanisms underlying CSBS caused by CLMP mutations. Whole-exome sequencing was performed to determine the pathogenic gene mutations in children with CSBS and their family members. In addition, a zebrafish model was established by microinjecting morpholinos into zebrafish embryos to investigate the role of clmp in intestinal embryonic development. This was investigated by measuring the length of zebrafish, evaluating gastrointestinal motility, and performing qRT-PCR assays. Two children with CSBS had CLMP mutations, one with a c.244C>T (p.R82*) mutation and exons 3-5 deletion, and the other with a c.23T>A (p.L8*) mutation and exons 3-5 deletion. After knocking down clmp expression in zebrafish embryos, the intestinal length and the gastrointestinal motility decreased. Furthermore, the expression of smooth muscle-associated genes decreased significantly. Additionally, clmp mRNA partially rescued zebrafish defects caused by clmp morpholino knockdown. Clmp knockdown decreased intestinal transport dynamics and expression of smooth muscle-related genes in zebrafish. CLMP is expected to be a potential gene therapeutic target for CSBS.

Filamin A (FLNA) mutations are associated with the development of numerous diseases and disorders. Although recent studies have shed light on genotype-phenotype relationships, the evidence remains fragmented. Herein, we report the case of a male infant with an FLNA nonsense mutation (c.5265C>G; p.Tyr1755*) identified through trio whole-exome sequencing. The patient exhibited multisystem dysfunction, including periventricular nodular heterotopia, congenital heart disease (perimembranous ventricular septal defect), congenital short bowel syndrome, lung disease, and fatal sepsis. We analyzed this case along with a systematic review of 62 cases of male patients with FLNA mutations to explore genotype-phenotype relationships. Results: Following the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines, the variant was classified as likely pathogenic (PVS1, PM2, and PP3). Segregation analysis confirmed maternal inheritance. Standard genetic testing (karyotype and CGH-array) results were unremarkable. This case expands the phenotypic spectrum of FLNA deficiency, linking a nonsense mutation to a severe clinical course with fatal complications such as necrotizing enterocolitis and sepsis, highlighting the need for vigilant multi-organ monitoring.

Congenital and hereditary intestinal diseases are a group of major disorders caused by gene mutations or embryonic developmental anomalies and are characterized by diverse clinical manifestations and complex management. This review systematically explores the molecular genetic basis and pathogenic mechanisms of common intestinal diseases, including familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome (PJS), Lynch syndrome (LS), Hirschsprung disease (HSCR), congenital short bowel syndrome (SBS), and cystic fibrosis (CF). It focuses on cross-disease commonalities in translational research frontiers such as gene-environment interactions, organoid-based precision medicine, the immune microenvironment, and metabolic and microbiome remodeling. The review also forecasts future directions, including gene therapy, targeted drugs, and other cutting-edge research advances.

Congenital short bowel syndrome (CSBS) is a rare disorder characterized by a congenital shortage in the length of the small intestines, resulting in compromised intestinal functionality, frequently accompanied by congenital intestinal malrotation. This study summarizes the experience of enteral and parenteral nutrition (PN) schemes for two cases of CSBS accompanied by intestinal malrotation to provide a reference for this condition. Case 1 underwent surgical intervention 23 days after birth, but experienced postoperative intolerance to oral feeding. Consequently, the patient was transitioned to nasal feeding for 6 months while concurrently receiving round-the-clock PN. Despite ongoing adjustments to the caloric intake of enteral and PN throughout the treatment, cholestatic liver injury persisted. Furthermore, this child developed malnutrition by the age of 1 year. Case 2 received surgical intervention on 2 days after birth, demonstrating favorable tolerance for enteral feeding and intermittent PN. The child exhibited satisfactory growth and development without any associated complications. CSBS is rarely encountered in clinical practice and is often accompanied by congenital intestinal malrotation. It can be improved with early diagnosis and active surgical intervention. Thus, we recommend early initiation of total PN, which is a highly effective measure in promoting early growth and development.