Janssens K, Gershoni-Baruch R, Van Hul E, Brik R, Guañabens N, Migone N, Verbruggen L A, Ralston S H, Bonduelle M, Van Maldergem L, Vanhoenacker F, Van Hul W
Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium.
J Med Genet. 2000 Apr;37(4):245-9. doi: 10.1136/jmg.37.4.245.
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).
卡穆拉蒂-恩格尔曼病，即进行性骨干发育异常或骨干发育异常卡穆拉蒂-恩格尔曼病，是一种罕见的常染色体显性遗传性骨病，其特征为主要影响长骨干骺端并伴有颅骨肥厚的进行性皮质增厚和硬化。主要临床特征为腿部剧痛、肌肉无力和蹒跚步态。该病的潜在病因尚不清楚。为了定位致病基因，我们对一个四代中有18名患者的伊拉克犹太大家庭进行了连锁研究。使用高度多态性标记进行全基因组搜索显示与19号染色体q13区域的几个标记存在连锁关系。标记D19S425（58.7厘摩，19q13.1）和D19S900（67.1厘摩，19q13.2）获得的最大对数优势分数为4.9（θ=0）。致病基因位于一个约32厘摩的候选区域内，两侧分别为标记D19S868（55.9厘摩，19q13.1）和D19S571（87.7厘摩，19q13.4）。
