Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13

Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bon e disease, characterised by progressive cortical expansion and sclerosis ma inly affecting the diaphyses of the long bones associated with cranial hype rostosis. The main clinical features are severe pain in the legs, muscular weakness, and a waddling gait. The underlying cause of this condition remai ns unknown. In order to localise the disease causing gene, we performed a l inkage study in a large Jewish-Iraqi family with 18 affected subjects in fo ur generations. A genome wide search with highly polymorphic markers showed linkage with several markers at chromosome 19q13. A maximum lod score of 4 .9 (theta=0) was obtained with markers D19S425 (58.7 cM, 19q13.1) and D19S9 00 (67.1 cM, 19q13.2). The disease causing gene is located in a candidate r egion of approximately 32 cM, flanked by markers D19S868 (55.9 cM, 19q13.1) and D19S571 (87.7 cM, 19q13.4).