title: 21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.
abstract: Here we report three patients affected with neurodevelopmental disorders and harbouring 21q21 deletions involving NCAM2 gene. NCAM (Neural Cell Adhesion Molecule) proteins are involved in axonal migration, synaptic formation and plasticity. Poor axonal growth and fasciculation is observed in animal models deficient for NCAM2. Moreover, this gene has been proposed as a candidate for autism, based on genome-wide association studies. In this report, we provide a comprehensive molecular and phenotypical characterisation of three deletion cases giving additional clues for the involvement of NCAM2 in neurodevelopment.
authors.affiliation: Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU Lille, France; Université Lille Nord de France, Lille, France. Electronic address: florence.petit@chru-lille.fr.
authors.forename: Florence
authors.initials: F
authors.lastname: Petit
authors.affiliation: Service de génétique, Hôpital Clémenceau, CHU Caen, France.
authors.forename: Ghislaine
authors.initials: G
authors.lastname: Plessis
authors.affiliation: Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU Lille, France.
authors.forename: Matthieu
authors.initials: M
authors.lastname: Decamp
authors.affiliation: Service de Neuropédiatrie, Hôpital Roger Salengro, CHRU Lille, France.
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Cuisset
authors.affiliation: Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom.
authors.forename: Moira
authors.initials: M
authors.lastname: Blyth
authors.affiliation: Yorkshire Regional Genetics Service, St James Hospital, Leeds, United Kingdom.
authors.forename: Maria
authors.initials: M
authors.lastname: Pendlebury
authors.affiliation: Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU Lille, France.
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D039842:Neural Cell Adhesion Molecule L1 / Q000235:genetics*; D019006:Neural Cell Adhesion Molecules
chemical_list: C108033:NCAM2 protein, human; D039842:Neural Cell Adhesion Molecule L1; D019006:Neural Cell Adhesion Molecules
keywords: 21q21 deletion; Array comparative genomic hybridization; Chromosomal abnormalities; Developmental delay; NCAM2