title: Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.
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.
authors.affiliation: Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Maria M
authors.initials: MM
authors.lastname: Alves
authors.affiliation: Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Danny
authors.initials: D
authors.lastname: Halim
authors.affiliation: University of Exeter Medical School, RILD Wellcome Wofston Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
authors.forename: Reza
authors.initials: R
authors.lastname: Maroofian
authors.affiliation: Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Bianca M
authors.initials: BM
authors.lastname: de Graaf
authors.affiliation: Department of Pediatrics, University Hospital of Antwerp, Antwerp, Belgium.
authors.forename: Raoul
authors.initials: R
authors.lastname: Rooman
authors.affiliation: Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
authors.forename: Christine S
authors.initials: CS
authors.lastname: van der Werf
authors.affiliation: Department of Pediatrics, University Hospital of Antwerp, Antwerp, Belgium.
authors.forename: Els
authors.initials: E
authors.lastname: Van de Vijver
authors.affiliation: Biomedical and Clinical Genetic Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.|Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
authors.forename: Mohammad Yv
authors.initials: MY
authors.lastname: Mehrjardi
authors.affiliation: Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
authors.forename: Majid
authors.initials: M
authors.lastname: Aflatoonian
authors.affiliation: University of Exeter Medical School, RILD Wellcome Wofston Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
authors.forename: Barry A
authors.initials: BA
authors.lastname: Chioza
authors.affiliation: University of Exeter Medical School, RILD Wellcome Wofston Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.|Faculty of Medicine, University of Southampton, Southampton, UK.
authors.forename: Emma L
authors.initials: EL
authors.lastname: Baple
authors.affiliation: Biomedical and Clinical Genetic Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.|Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
authors.forename: Mohammadreza
authors.initials: M
authors.lastname: Dehghani
authors.affiliation: University of Exeter Medical School, RILD Wellcome Wofston Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
authors.forename: Andrew H
authors.initials: AH
authors.lastname: Crosby
authors.affiliation: Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Robert Mw
authors.initials: RM
authors.lastname: Hofstra
mesh_terms: D000818:Animals; D016466:CHO Cells; D062727:Coxsackie and Adenovirus Receptor-Like Membrane Protein / Q000235:genetics*; D006224:Cricetinae; D003412:Cricetulus; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010375:Pedigree; D012778:Short Bowel Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: C568771:CLMP protein, human; D062727:Coxsackie and Adenovirus Receptor-Like Membrane Protein