A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34
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- Isidor, B., Dagoneau, N., Huber, C. et al. Hum Genet (2007) 121: 269. doi:10.1007/s00439-006-0311-1
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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 θ = 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.