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

被引:31
作者
Janssens, K
Gershoni-Baruch, R
Van Hul, E
Brik, R
Guañabens, N
Migone, N
Verbruggen, LA
Ralston, SH
Bonduelle, M
Van Maldergem, L
Vanhoenacker, F
Van Hul, W
机构
[1] Univ Antwerp, Dept Med Genet, B-2610 Antwerp, Belgium
[2] Technion Israel Inst Technol, Rambam Med Ctr, Dept Human Genet & Paediat, Haifa, Israel
[3] Technion Israel Inst Technol, Bruce Rappaport Fac Med, IL-31096 Haifa, Israel
[4] Hosp Clin Barcelona, Dept Rheumatol, Barcelona, Spain
[5] Univ Turin, Dept Genet Biol & Biochem, Turin, Italy
[6] Univ Hosp Brussels, Dept Rheumatol, Brussels, Belgium
[7] Univ Aberdeen, Sch Med, Dept Med & Therapeut, Aberdeen AB9 2ZD, Scotland
[8] Univ Hosp Brussels, Dept Med Genet, Brussels, Belgium
[9] Ctr Human Genet, Inst Pathol & Genet, Loverval, Belgium
[10] Univ Antwerp Hosp, Dept Radiol, Antwerp, Belgium
关键词
Camurari-Engelmann disease; progressive diaphyseal dysplasia; chromosome; 19q13; sclerosing bone dysplasia;
D O I
10.1136/jmg.37.4.245
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone disease, characterised by progressive cortical expansion and sclerosis mainly affecting the diaphyses of the long bones associated with cranial hyperostosis. The main clinical features are severe pain in the legs, muscular weakness, and a waddling gait. The underlying cause of this condition remains unknown. In order to localise the disease causing gene, we performed a linkage study in a large Jewish-Iraqi family with 18 affected subjects in four 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 D19S900 (67.1 cM, 19q13.2). The disease causing gene is located in a candidate region of approximately 32 cM, flanked by markers D19S868 (55.9 cM, 19q13.1) and D19S571 (87.7 cM, 19q13.4).
引用
收藏
页码:245 / 249
页数:5
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