Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese family

Molecular Vision

Volumn 14, Issue , 2008, Pages 1893-1897

  Zhang, Shirong ^a,b   Liu, Mugen ^a,b   Dong, Jia Mei ^c   Yin, Ke ^a,b   Wang, Pengyun ^a,b,d   Bu, Juan ^c   Li, Jing ^c   Hao, Yan Sheng ^c   Hao, Ping ^e   Wang, Qing Kenneth ^a,b,f   Wang, Lejin ^a,b,c  

^a BEIJING UNIVERSITY OF POSTS AND TELECOMMUNICATIONS   (China)

^b HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^c PEKING UNIVERSITY   (China)

^d GUIYANG COLLEGE OF TRADITIONAL CHINESE MEDICINE   (China)

^e Shangqui Eye Hospital   (China)

^f LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BEADED FILAMENT STRUCTURAL PROTEIN 1; GENE PRODUCT; PROTEIN CHMP4B; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHINESE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 20P; CHROMOSOME IDENTIFICATION; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENOTYPE; HUMAN; INFANTILE CATARACT; LENS IMPLANTATION; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CATARACT; CHILD; CHINA; CHROMOSOMES, HUMAN, PAIR 20; CORNEAL OPACITY; FAMILY; FEMALE; GENES, DOMINANT; HUMANS; LOD SCORE; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE;

EID: 55349132709     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Rahi JS, Dezateux C. Measuring and interpreting the incidence of congenital ocular anomalies: lessons from a national study of congenital cataract in the UK. Invest Ophthalmol Vis Sci 2001; 42:1444-8.
2. SanGiovanni JP, Chew EY, Reed GF, Remaley NA, Bateman JB, Sugimoto TA, Klebanoff MA. Infantile cataract in the collaborative perinatal project: prevalence and risk factors. Arch Ophthalmol 2002; 120:1559-65.
3. Wirth MG, Russell-Eggitt IM, Craig JE, Elder JE, Mackey DA. Aetiology of congenital and paediatric cataract in an Australian population. Br J Ophthalmol 2002; 86:782-6.
4. Vanita, Singh JR, Singh D. Genetic and segregation analysis of congenital cataract in the Indian population. Clin Genet 1999; 56:389-93.
5. Francis PJ, Berry V, Hardcastle AJ, Maher ER, Moore AT, Bhattacharya SS. A locus for isolated cataract on human Xp. J Med Genet 2002; 39:105-9.
6. Shiels A, Hejtmancik JF. Genetic origins of cataract. Arch Ophthalmol 2007; 125:165-73.
7. Ionides A, Francis P, Berry V, Mackay D, Bhattacharya S, Shiels A, Moore A. Clinical and genetic heterogeneity in autosomal dominant cataract. Br J Ophthalmol 1999; 83:802-8.
8. Ke T, Wang QK, Ji B, Wang X, Liu P, Zhang X, Tang Z, Ren X, Liu M. Novel HSF4 mutation causes congenital total white cataract in a Chinese family. Am J Ophthalmol 2006; 142:298-303.
9. Gu F, Zhai H, Li D, Zhao L, Li C, Huang S, Ma X. A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family. Mol Vis 2007; 13:1651-6.
10. Khan AO, Aldahmesh MA, Meyer B. Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C). Am J Ophthalmol 2007; 144:949-52.
11. Yamada K, Tomita H, Yoshiura K, Kondo S, Wakui K, Fukushima Y, Ikegawa S, Nakamura Y, Amemiya T, Niikawa N. An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12. Eur J Hum Genet 2000; 8:535-9.
12. Li N, Yang Y, Bu J, Zhao C, Lu S, Zhao J, Yan L, Cui L, Zheng R, Li J, Tang J, Zhao K. An autosomal dominant progressive congenital zonular nuclear cataract linked to chromosome 20p12.2-p11.23. Mol Vis 2006; 12:1506-10.
13. Shiels A, Bennett TM, Knopf HL, Yamada K, Yoshiura K, Niikawa N, Shim S, Hanson PI. CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet 2007; 81:596-606.
14. Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, Bruchis A, Hess JF, FitzGerald PG, Weeks DE, Ferrell RE, Gorin MB. A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. Am J Hum Genet 2000; 66:1426-31.
15. Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. Am J Hum Genet 2000; 66:1432-6.
16. Ramachandran RD, Perumalsamy V, Hejtmancik JF. Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet 2007; 121:475-82.