2. Academic Validation
  3. Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation

Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation

  • Biochim Biophys Acta. 2015 Nov;1852(11):2352-61. doi: 10.1016/j.bbadis.2015.08.007.
Christine S van der Werf 1,  Danny Halim 2,  Joke B G M Verheij 1,  Maria M Alves 2,  Robert M W Hofstra 3
Affiliations

Affiliations

  • 1 Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • 2 Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • 3 Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands. Electronic address: [email protected].
PMID: 26282049 DOI: 10.1016/j.bbadis.2015.08.007
Abstract

Congenital Short Bowel Syndrome (CSBS) is a rare gastrointestinal disorder in which the mean length of the small intestine is substantially reduced when compared to its normal counterpart. Families with several affected members have been described and CSBS has been suggested to have a genetic basis. Recently, our group found mutations in CLMP as the cause of the recessive form of CSBS, and mutations in FLNA as the cause of the X-linked form of the disease. These findings have improved the quality of genetic counselling for CSBS patients and made prenatal diagnostics possible. Moreover, they provided a reliable starting point to further investigate the pathogenesis of CSBS, and to better understand the development of the small intestine. In this review, we present our current knowledge on CSBS and discuss hypotheses on how the recent genetic findings can help understand the cause of CSBS.

Keywords

CLMP; Congenital Short Bowel Syndrome; Development; FLNA; Small intestine.

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