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Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

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.

SUBMITTER: Alves MM

PROVIDER: S-EPMC5055811 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature

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Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

Alves Maria M MM Halim Danny D Maroofian Reza R de Graaf Bianca M BM Rooman Raoul R van der Werf Christine S CS Van de Vijver Els E Mehrjardi Mohammad Yv MY Aflatoonian Majid M Chioza Barry A BA Baple Emma L EL Dehghani Mohammadreza M Crosby Andrew H AH Hofstra Robert Mw RM

European journal of human genetics : EJHG 20160629 11

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, co ...[more]

PMID: 27352967

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