title: Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1.
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 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.
authors.affiliation: Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, 510060, China.
authors.forename: Xiangming
authors.initials: X
authors.lastname: Guo
authors.affiliation: Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, 510060, China.
authors.forename: Huangxuan
authors.initials: H
authors.lastname: Shen
authors.affiliation: Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, 510060, China.
authors.forename: Xueshan
authors.initials: X
authors.lastname: Xiao
authors.affiliation: Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, 510080, China.
authors.forename: Qilin
authors.initials: Q
authors.lastname: Dai
authors.affiliation: Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, 510060, China.
authors.forename: Shiqiang
authors.initials: S
authors.lastname: Li
authors.affiliation: Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, 510060, China.
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Jia
authors.affiliation: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
authors.forename: J Fielding
authors.initials: JF
authors.lastname: Hejtmancik
authors.affiliation: Key Laboratory of Ophthalmology of the Ministry of Education and Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, 510060, China. qingjiongzhang@yahoo.com.|Department of Ophthalmic Genetics and Molecular Biology, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou, 510060, China. qingjiongzhang@yahoo.com.
authors.forename: Qingjiong
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001259:Ataxia / Q000235:genetics*; D002386:Cataract / Q000235:genetics*; D002648:Child; D002681:China; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006130:Growth Disorders / Q000235:genetics*; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype