Isidor B, Dagoneau N, Huber C, Genevieve D, Bader-Meunier B, Blanche S, Picard C, De Vernejoul M C, Munnich A, Le Merrer M, Cormier-Daire V
Department of Medical Genetics and INSERM U781, Necker Enfants Malades Hospital, Paris, France.
Hum Genet. 2007 Apr;121(2):269-73. doi: 10.1007/s00439-006-0311-1. Epub 2007 Jan 3.
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.
