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- Title
Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1.
- Authors
Xiangming Guo; Huangxuan Shen; Xueshan Xiao; Qilin Dai; Shiqiang Li; Xiaoyun Jia; Hejtmancik, J.; Qingjiong Zhang
- Abstract
Six males in a Chinese family affected by congenital cataracts, cerebellar ataxia, short stature, and mental retardation, which were tentatively named CASM syndrome. Eight female carriers in the family had cataracts alone. Linkage analysis demonstrated that the disease is transmitted through X-linked inheritance, either by setting the syndrome in males as an X-linked recessive trait, or by setting cataracts in the family as an X-linked dominant trait. The gene responsible for the syndrome is mapped to Xpter-Xq13.1, with the highest lod score of 3.91 for DXS1226, DXS991, and DXS1213 at θ = 0. Haplotype analysis identified that the allele harboring the disease gene co-segregated with all female carriers as well as affected males in the family. Clinically and genetically, the disease in this family is different from any known disease. Major features of CASM syndrome that distinguish it from other diseases are X-linked inheritance and cataracts in carrier females.
- Subjects
CHINA; X-linked intellectual disabilities; CATARACT; CEREBELLAR ataxia; SHORT stature; GENETIC disorders
- Publication
Journal of Human Genetics, 2006, Vol 51, Issue 8, p695
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/s10038-006-0009-1