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 (Z max = 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.
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Isidor, B., Dagoneau, N., Huber, C. et al. A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34. Hum Genet 121, 269–273 (2007). https://doi.org/10.1007/s00439-006-0311-1
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DOI: https://doi.org/10.1007/s00439-006-0311-1