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

Christine S. van der Werf, Danny Halim, Joke B. G. M. Verheij, Maria M. Alves, Robert M. W. Hofstra*

*Corresponding author for this work

    Research output: Contribution to journalReview articlepeer-review

    20 Citations (Scopus)

    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. (C) 2015 Elsevier B.V. All rights reserved.

    Original languageEnglish
    Pages (from-to)2352-2361
    Number of pages10
    JournalBiochimica et biophysica acta-Molecular basis of disease
    Volume1852
    Issue number11
    DOIs
    Publication statusPublished - Nov-2015

    Keywords

    • Congenital Short Bowel Syndrome
    • Development
    • CLMP
    • FLNA
    • Small intestine
    • CYTOSKELETAL PROTEIN FILAMIN
    • NOTCH SIGNALING PATHWAY
    • LONG-TERM SURVIVAL
    • OF-THE-LITERATURE
    • HOMEO BOX GENE
    • FAMILIAL SYNDROME
    • WNT/BETA-CATENIN
    • PERIVENTRICULAR HETEROTOPIA
    • DIGESTIVE-TRACT
    • TIGHT JUNCTIONS

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