title: Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.
abstract: Leukodystrophies represent a heterogeneous group of rare hereditary diseases affecting the central nervous system. The underlying molecular defect remains unknown in almost 50% of cases. We previously assigned a new locus for leukodystrophy of unknown cause to chromosome 11q14.3 by identifying a de novo microdeletion in a sporadic case. We now report the precise molecular characterization of this microdeletion. Physical mapping of the region of interest allowed us to identify and analyze candidate gene(s) possibly implicated in leukodystrophy.
authors.affiliation: Laboratoire de Génétique Humaine, Développement et Cancer, Université Victor Segalen Bordeaux 2, F-33076, Bordeaux, France. cyril.goizet@chu-bordeaux.fr
authors.forename: Cyril
authors.initials: C
authors.lastname: Goizet
authors.forename: Isabelle
authors.initials: I
authors.lastname: Coupry
authors.forename: Caroline
authors.initials: C
authors.lastname: Rooryck
authors.forename: Laurence
authors.initials: L
authors.lastname: Taine
authors.forename: Virginie
authors.initials: V
authors.lastname: Dormoy
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: Benoît
authors.initials: B
authors.lastname: Arveiler
mesh_terms: D020789:Cathepsin C / Q000235:genetics; D002872:Chromosome Deletion; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D020451:Contig Mapping; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D020161:Physical Chromosome Mapping; D064529:Receptor, Metabotropic Glutamate 5; D018094:Receptors, Metabotropic Glutamate / Q000235:genetics
chemical_list: D064529:Receptor, Metabotropic Glutamate 5; D018094:Receptors, Metabotropic Glutamate; D020789:Cathepsin C