title: Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.
abstract: 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.
authors.affiliation: Neonatal Intensive Care Unit, Department of Pediatric Medicine, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France.
authors.forename: Lucile
authors.initials: L
authors.lastname: Gonnaud
authors.affiliation: Department of Clinical Genetics, Erasmus University Medical Center, PB 2040, 3000 CA Rotterdam, The Netherlands.
authors.forename: Maria M
authors.initials: MM
authors.lastname: Alves
authors.affiliation: Neonatal Intensive Care Unit, Department of Pediatric Medicine, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France.
authors.forename: Clara
authors.initials: C
authors.lastname: Cremillieux
authors.affiliation: Neonatal Intensive Care Unit, Department of Pediatric Medicine, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France.
authors.forename: Kareen
authors.initials: K
authors.lastname: Billiemaz
authors.affiliation: Neonatal Intensive Care Unit, Department of Pediatric Medicine, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Destombe
authors.affiliation: Department of Pediatric Surgery, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France.
authors.forename: François
authors.initials: F
authors.lastname: Varlet
authors.affiliation: Department of Pediatric Surgery, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France.
authors.forename: Manuel
authors.initials: M
authors.lastname: Lopez
authors.affiliation: Neonatal Intensive Care Unit, Department of Pediatric Medicine, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France.
authors.forename: Laurène
authors.initials: L
authors.lastname: Trapes
authors.affiliation: Department of Genetics, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France; EA SNA-EPIS Research Laboratory 4607, Jean-Monnet University, 42055 Saint-Étienne, France.
authors.forename: Renaud
authors.initials: R
authors.lastname: Touraine
authors.affiliation: Department of Clinical Genetics, Erasmus University Medical Center, PB 2040, 3000 CA Rotterdam, The Netherlands.
authors.forename: Robert M W
authors.initials: RM
authors.lastname: Hofstra
authors.affiliation: Neonatal Intensive Care Unit, Department of Pediatric Medicine, University Hospital of Saint-Étienne, 42055 Saint-Étienne, France; EA SNA-EPIS Research Laboratory 4607, Jean-Monnet University, 42055 Saint-Étienne, France. Electronic address: hugues.patural@chu-st-etienne.fr.
authors.forename: Hugues
authors.initials: H
authors.lastname: Patural
mesh_terms: D062727:Coxsackie and Adenovirus Receptor-Like Membrane Protein / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007418:Intestinal Pseudo-Obstruction / Q000235:genetics*; D045822:Intestinal Volvulus / Q000235:genetics; D007438:Introns; D009154:Mutation
chemical_list: C568771:CLMP protein, human; D062727:Coxsackie and Adenovirus Receptor-Like Membrane Protein