Mutations of the EPCAM gene have been recently identified in Congenital Tufting Enteropathy (CTE), a severe autosomal recessive gastrointestinal insufficiency of childhood requiring parenteral nutrition and occasionally intestinal transplantation. Studying seven multiplex consanguineous families from the Arabic peninsula (Kuwait and Qatar) we found that most patients were homozygote for a c.498insC mutation in exon 5. The others carried a novel mutation IVS4-2A→G. Both mutations were predicted to truncate the C-terminal domain necessary to anchorage of EPCAM at the intercellular membrane. Consistently, immunohistochemistry of intestinal biopsies failed to detect the EPCAM protein at the intercellular membrane level. The c.498insC mutation was found on the background of a minimal common haplotype of 473kb suggesting a very old founder effect (5000-6000 yrs).
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ejmg.2011.01.009 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Three patients with new mutations in the variant gene for congenital tufting enteropathy and a mutation review in China: a case report.
Transl Pediatr
August 2024
Department of Gastroenterology, Children's Hospital of Fudan University, Shanghai, China.
Background: Congenital tufting enteropathy (CTE) is a rare cause of intractable congenital diarrhea in children, always resulting in parenteral nutrition (PN) dependency. We aimed to report novel mutations in Chinese patients and to illustrate the clinical, histopathological, and molecular features of CTE in China.
Case Description: We report three cases of CTE diagnosed with whole-exome sequencing (WES) and MOC31 [a monoclonal antibody of epithelial cell adhesion molecule (EPCAM)] immunohistochemistry.
Approach to Congenital Diarrhea and Enteropathies (CODEs).
Indian J Pediatr
June 2024
Department of Gastroenterology, Queensland Children's Hospital, South Brisbane, QLD, Australia.
Congenital diarrhea and enteropathies (CODEs) constitute a group of rare genetic disorders characterized by severe diarrhea and malabsorption in the neonatal period or early infancy. Timely diagnosis and treatment is essential to prevent life-threatening complications, including dehydration, electrolyte imbalance, and malnutrition. This review offers a simplified approach to the diagnosis of CODEs, with a specific focus on microvillus inclusion disease (MVID), congenital tufting enteropathy (CTE), congenital chloride diarrhea (CLD), and congenital sodium diarrhea (CSD).
View Article and Find Full Text PDFBiallelic variants of the first Kunitz domain of SPINT2 cause a non-syndromic form of congenital diarrhea and tufting enteropathy.
Am J Med Genet A
March 2024
Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.
Biallelic SPINT2 pathogenic variants cause a syndromic form of congenital diarrhea and enteropathy (OMIM 270420). To date, 35 patients have been reported and all presented with additional extra-intestinal features, apart from one case. We report on a 5-year-old girl who presented early in life with diarrhea and was found to have a novel homozygous variant in SPINT2.
View Article and Find Full Text PDFPostoperative Relapse Prediction in Patients With Ewing Sarcoma Using Computed Tomography-Based Radiomics Models Covering Tumor Per Se and Peritumoral Signatures.
J Comput Assist Tomogr
November 2023
From the Department of Radiology, Peking University People's Hospital.
Objective: We aimed to develop and validate a computed tomography (CT)-based radiomics model for early relapse prediction in patients with Ewing sarcoma (ES).
Methods: We recruited 104 patients in this study. Tumor areas and areas with a tumor expansion of 3 mm were used as regions of interest for radiomics analysis.
Not all enteropathies are coeliac disease! Report of an infant with microvillus inclusion disease.
Gastroenterol Hepatol Bed Bench
January 2023
Department of Pathology, Ankara University Medical School, Ankara, Turkey.
Primary enteropathies of infancy comprise of epithelial defects including microvillus inclusion disease, tufting enteropathy, and enteroendocrine cell dysgenesis and autoimmune enteropathies. The diseases in this group cause severe chronic (>2-3 weeks) diarrhoea starting in the first weeks of life and resulting in failure to thrive in the infant. Duodenal biopsies show moderate villous shortening together with crypt hyperplasia which are the main features causing resemblance to coeliac disease.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!