Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1
Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1
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映射到 Xpter-q13.1 的中国家庭的白内障、共济失调、身材矮小和智力低下
DOI：
10.1007/s10038-006-0009-1
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发表时间：
2006-07
影响因子：
3.5
通讯作者：
Xiao, Xueshan
中科院分区：
文献类型：
--
作者：
Li, Shiqiang;Dai, Qilin;Guo, Xiangming;Shen, Huangxuan;Jia, Xiaoyun;Zhang, Qingjiong;Hejtmancik, J. Fielding;Xiao, Xueshan
一个中国家系的6名男性患有先天性白内障、小脑性共济失调、身材矮小和智力低下，暂命名为CASM综合征。家族中有8名女性携带者单独患有白内障。连锁分析表明，这种疾病是通过X连锁遗传传播的，要么将男性的综合征设定为X连锁隐性性状，要么将家族中的白内障设定为X连锁显性性状。导致该综合征的基因定位于Xpter-Xq 13.1，在θ = 0时DXS 1226、DXS 991和DXS 1213的lod得分最高，为3.91。单倍型分析表明，携带该疾病基因的等位基因与所有女性携带者以及家族中受影响的男性共分离。从临床和遗传学上看，这个家族的疾病不同于任何已知的疾病。CASM综合征区别于其他疾病的主要特征是X连锁遗传和携带者女性的白内障。
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 theta = 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.
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影响因子：
4
作者：
C. Lagier-Tourenne;D. Chaigne;J. Gong;J. Flori;M. Mohr;D. Ruh;D. Christmann;J. Flament;J. Mandel;M. Koenig;H. Dollfus
通讯作者：
C. Lagier-Tourenne;D. Chaigne;J. Gong;J. Flori;M. Mohr;D. Ruh;D. Christmann;J. Flament;J. Mandel;M. Koenig;H. Dollfus
影响因子：
4
作者：
J. H. Begeer;F. Scholte;A. J. V. Essen;Begeer Mariencamp
通讯作者：
J. H. Begeer;F. Scholte;A. J. V. Essen;Begeer Mariencamp
影响因子：
30.8
作者：
Anttonen, AK;Mahjneh, I;Lehesjoki, AE
通讯作者：
Lehesjoki, AE
影响因子：
30.8
作者：
Senderek, J;Krieger, M;Zerres, K
通讯作者：
Zerres, K
DOI：
10.1002/(sici)1096-8628(19960503)63:1
发表时间：
1996-05
期刊：
American journal of medical genetics
影响因子：
--
作者：
R. Pankau;C. Partsch;Martin Winter;A. Gosch;Armin Wessel
通讯作者：
R. Pankau;C. Partsch;Martin Winter;A. Gosch;Armin Wessel