ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Clinical Insights intoGenes · 2026Article
- The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East.JPGN reports · 2026Article
- LEF1 gene mutation impairs the intestinal barrier and causes diarrhea.Molecular and cellular pediatrics · 2026Article
- Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.Biomedical reports · 2025Article
- Immunogenetic investigation of WAS patients revealing impaired IL-6/STAT3 signaling in T cells.Frontiers in immunology · 2025Article
- A 37-kb Deletion in Region 16p13.3 in an Infant with Osteopetrosis and Congenital Diarrhea Including the CLCN7 and PERCC1 Genes.Molecular syndromology · 2024Article
- Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards.Nature reviews. Gastroenterology & hepatology · 2023Review
- Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.Human genetics · 2023Article
- An interleukin 10 Receptor alpha (IL-10RA) variant with a compound heterozygote mutation shows normal IL-10 signaling activity.Genes & diseases · 2023Article
- Tufting enteropathy: a rare anatomical cause of small bowel diarrhoea in infants with mild or no villous abnormality.Gastroenterology and hepatology from bed to bench · 2023Article
- Using next-generation sequencing to develop a Shigella species threshold and profile faecal samples from suspected diarrhoea cases.Folia microbiologica · 2021Article
- Characterization of novel and large fragment deletions in exon 1 of the IL10RA gene in Chinese children with very early onset inflammatory bowel diseases.BMC gastroenterology · 2021Article
- From Congenital Disorders of Fat Malabsorption to Understanding Intra-Enterocyte Mechanisms Behind Chylomicron Assembly and Secretion.Frontiers in physiology · 2021Review
- DGAT1 mutations leading to delayed chronic diarrhoea: a case report.BMC medical genetics · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeGenetic sequencing for children with congenital diarrhea and enteropathy (CODE) has important implications for the diagnosis, prognosis, and implementation of precision medicine.
methodsWe performed exome sequencing or targeted panel sequencing on 137 children with CODE. Endoscopic, imaging, histological, and immunological assessments were also applied. Patients were divided into three subgroups: watery, fatty, and bloody diarrhea.
resultsThe median age of onset among patients was 28.0 (interquartile range: 7.5-120.0) days. Genetic diagnosis was achieved in 88/137 (64.2%) of patients. The diagnostic rate was significantly higher in the neonatal group than in the group of patients who had disease onset within 2 years of age (p = 0.033). The diagnostic rates were 71.9% (46/64) for targeted gene panel sequencing and 57.5% (42/73) for exome sequencing (p = 0.081). We identified pathogenic variants in 17 genes. Based on genetic sequencing, 59.9% of patients were diagnosed with medically actionable disorders. Precision medicine was carried out by means of hematopoietic stem cell transplantation for patients with IL10RA, CYBB, or FOXP3 deficiency; pancreatic enzyme replacement for patients with SBDS or UBR1 deficiency; and a special diet for patients with SLC5A1 deficiency. The overall mortality rate was 14.6%.
conclusionSingle-gene disorders are common among CODE patients. Genetic diagnosis can improve therapy by enabling precision medicine.
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