1. Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder
- Author
-
Els Van de Vijver, Mohammadreza Dehghani, Danny Halim, Barry A. Chioza, Reza Maroofian, Bianca M. de Graaf, Andrew H. Crosby, Majid Aflatoonian, R. Rooman, Emma L. Baple, Christine S. van der Werf, Maria M. Alves, Robert M. W. Hofstra, Mohammad Yahya Vahidi Mehrjardi, and Clinical Genetics
- Subjects
Short Bowel Syndrome ,0301 basic medicine ,Coxsackie and Adenovirus Receptor-Like Membrane Protein ,medicine.medical_specialty ,Short Report ,Genes, Recessive ,CHO Cells ,Disease ,Biology ,medicine.disease_cause ,03 medical and health sciences ,Cricetulus ,0302 clinical medicine ,Genetic linkage ,Cricetinae ,Molecular genetics ,Genetics ,medicine ,Animals ,Humans ,Congenital short bowel syndrome ,Genetics (clinical) ,Mutation ,MUTATIONS ,Infant, Newborn ,Major gene ,Human genetics ,Pedigree ,Chemistry ,030104 developmental biology ,030220 oncology & carcinogenesis ,Medical genetics ,Female ,Human medicine - Abstract
Congenital short bowel syndrome (CSBS) is an intestinal pediatric disorder, where patients are born with a dramatic shortened small intestine. Pathogenic variants in CLMP were recently identified to cause an autosomal recessive form of the disease. However, due to the rare nature of CSBS, only a small number of patients have been reported to date with variants in this gene. In this report, we describe novel inherited variants in CLMP in three CSBS patients derived from two unrelated families, confirming CLMP as the major gene involved in the development of the recessive form of CSBS.
- Published
- 2016
- Full Text
- View/download PDF