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.

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Biochimica et Biophysica Acta - Molecular Basis of Disease
Department of Clinical Genetics

van der Werf, C., Halim, D., Verheij, J., Alves, M., & Hofstra, R. (2015). Congenital Short Bowel Syndrome: From clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation. Biochimica et Biophysica Acta - Molecular Basis of Disease (Vol. 1852, pp. 2352–2361). doi:10.1016/j.bbadis.2015.08.007