Localization of the gene for sclerosteosis to the van Buchem Disease-gene region on chromosome 17q12-q21
Localization of the gene for sclerosteosis to the van Buchem Disease-gene region on chromosome 17q12-q21
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DOI：
10.1086/302416
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发表时间：
1999-06-01
影响因子：
9.8
通讯作者：
Van Hul, W
中科院分区：
文献类型：
--
作者：
Balemans, W;Van Den Ende, J;Van Hul, W
硬化症是一种罕见的、常染色体隐性遗传的、进行性的、硬化性骨发育不良，其特征在于骨骼的全身性骨质增生和骨质增生，主要影响颅骨和下颌骨。在大多数患者中，这会导致面瘫和听力损失。其他特征是手畸形和手畸形。在本研究中，在两个同源的家庭与骨质疏松症的连锁分析，导致骨质疏松症基因的染色体17 q12-q21的分配。分析该区域是因为最近将导致货车Buchem病的基因分配到该染色体区域，该疾病是一种常染色体隐性遗传疾病，具有与骨质增生相似的骨质增生。由于硬化性骨质疏松症和货车-布赫姆病之间的临床相似性，以前曾提出这两种疾病可能是由同一基因突变引起的。我们的研究现在为这一假设提供了遗传学证据。
Sclerosteosis is an uncommon, autosomal recessive, progressive, sclerosing, bone dysplasia characterized by generalized osteosclerosis and hyperostosis of the skeleton, affecting mainly the skull and mandible. In most patients this causes facial paralysis and hearing loss. Other features are gigantism and hand abnormalities. In the present study, linkage analysis in two consanguineous families with sclerosteosis resulted in the assignment of the sclerosteosis gene to chromosome 17q12-q21. This region was analyzed because of the recent assignment to this chromosomal region of the gene causing van Buchem disease, a fare autosomal recessive condition with a hyperostosis similar to sclerosteosis. Because of the clinical similarities between sclerosteosis and van Buchem disease, it has previously been suggested that both conditions might be caused by mutations in the same gene. Our study now provides genetic evidence for this hypothesis.