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.
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Acknowledgements
We would like to thank all the families involved in this study. We would also like to thank Katherine MacKenzie for technical assistance with the confocal microscope. In addition, we would like to dedicate this short report in memory of the pediatric gastroenterologist involved in the diagnosis and care of one of the patients described, Dr André Deprettere. This study was supported by a grant from the Stichting Sophia Kinderziekenhuis Fonds (MMA and RMWH), a Mrace grant from the Erasmus University Medical Center (RMWH), and by the Newlife Foundation, as well as the MRC, UK (AHC).
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Alves, M., Halim, D., Maroofian, R. et al. Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. Eur J Hum Genet 24, 1627–1629 (2016). https://doi.org/10.1038/ejhg.2016.58
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DOI: https://doi.org/10.1038/ejhg.2016.58
