Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome

Clin Res Hepatol Gastroenterol. 2016 Dec;40(6):e65-e67. doi: 10.1016/j.clinre.2015.12.018. Epub 2016 Oct 4.


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 35cm.

Publication types

  • Case Reports

MeSH terms

  • Coxsackie and Adenovirus Receptor-Like Membrane Protein / genetics*
  • Exons
  • Female
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Intestinal Pseudo-Obstruction / genetics*
  • Intestinal Volvulus / genetics
  • Introns
  • Mutation*


  • CLMP protein, human
  • Coxsackie and Adenovirus Receptor-Like Membrane Protein