A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.
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.
Isidor
B
B
Department of Medical Genetics and INSERM U781, Necker Enfants Malades Hospital, Paris, France.
Dagoneau
N
N
Huber
C
C
Genevieve
D
D
Bader-Meunier
B
B
Blanche
S
S
Picard
C
C
De Vernejoul
M C
MC
Munnich
A
A
Le Merrer
M
M
Cormier-Daire
V
V
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