Tahvanainen E, Norio R, Karila E, Ranta S, Weissenbach J, Sistonen P, de la Chapelle A
Department of Medical Genetics, University of Helsinki, Finland.
Nat Genet. 1994 Jun;7(2):201-4. doi: 10.1038/ng0694-201.
Cohen syndrome is an autosomal recessive disorder characterized by mental and motor retardation, short stature, microcephaly, several dysmorphic features, major ocular symptoms and granulocytopenia. Major research challenges are the confusing nosology and the pleiotropy of the gene. We report the mapping of a locus (CHS1) by linkage analysis in as few as four two-generation pedigrees with uniform clinical features. CHS1 was assigned to an interval of approximately 10 cM between D8S270 and D8S521. Our results provide a tool to a more accurate definition of Cohen syndrome(s) and a starting point for the positional cloning of CHS1.
科恩综合征是一种常染色体隐性疾病，其特征为智力和运动发育迟缓、身材矮小、小头畸形、多种畸形特征、主要眼部症状以及粒细胞减少症。主要的研究挑战在于令人困惑的疾病分类学以及该基因的多效性。我们报告了通过连锁分析在仅四个具有一致临床特征的两代家系中对一个基因座（CHS1）进行定位的情况。CHS1被定位到D8S270和D8S521之间大约10厘摩的区间。我们的结果为更准确地定义科恩综合征提供了一种工具，并为CHS1的定位克隆提供了一个起点。
