title: A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.
abstract: Ghosal hemato-diaphyseal dysplasia is a rare autosomal recessive disorder characterized by a progressive sclerosing diaphyseal dysplasia and refractory anemia. The pathogenesis and genetic bases of this syndrome remain hitherto unknown. We have performed a genome wide search in two inbred families originating from Algeria and Tunisia. Here, we report on the mapping of a disease gene to chromosome 7q33-34 (Zmax = 4.21 at theta = 0 at locus D7S2513) in a 3.4 Mb defined by loci D7S2560 and AC091742. Ongoing studies will hopefully lead to identification of the disease-causing gene.
authors.affiliation: Department of Medical Genetics and INSERM U781, Necker Enfants Malades Hospital, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Isidor
authors.forename: N
authors.initials: N
authors.lastname: Dagoneau
authors.forename: C
authors.initials: C
authors.lastname: Huber
authors.forename: D
authors.initials: D
authors.lastname: Genevieve
authors.forename: B
authors.initials: B
authors.lastname: Bader-Meunier
authors.forename: S
authors.initials: S
authors.lastname: Blanche
authors.forename: C
authors.initials: C
authors.lastname: Picard
authors.forename: M C
authors.initials: MC
authors.lastname: De Vernejoul
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
mesh_terms: D000328:Adult; D000462:Algeria; D003966:Camurati-Engelmann Syndrome / Q000235:genetics*; D002675:Child, Preschool; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D014416:Tunisia