Congenital short-bowel syndrome (CSBS) is a rare neonatal pathology associated with poor prognosis and high mortality rate. We describe a newborn presenting CSBS intestinal malrotation and chronic intestinal pseudo-obstruction syndrome (CIPS), compound heterozygous for two previously unreported heterozygous mutations in Coxsackie and adenovirus receptor-like membrane protein (CLMP) gene, one in intron 1 (c.28+1G>C), the other on exon 4 (c502C>T, p.R168X). Both mutations are predicted to be pathogenic, leading to impaired splicing and the appearance of a premature stop codon, respectively. Our case is remarkable in that it concerns two heterozygous truncating mutations associated with a good clinical prognosis with a favorable cerebral and gastrointestinal outcome and a substantial enteral input at 8 months of age, despite a small intestine measuring only 35 cm.

doi.org/10.1016/j.clinre.2015.12.018, hdl.handle.net/1765/94495
Clinics and Research in Hepatology and Gastroenterology
Department of Clinical Genetics

Gonnaud, L. (Lucile), Alves, M., Cremillieux, C. (Clara), Billiemaz, K. (Kareen), Destombe, S. (Sylvie), Varlet, F. (François), … Patural, H. (Hugues). (2016). Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome. Clinics and Research in Hepatology and Gastroenterology, 40(6), e65–e67. doi:10.1016/j.clinre.2015.12.018