A heterozygous transversion of connexin 50 in a family with congenital nuclear cataract in the northeast of China

Chinese Journal of Medical Genetics

Volumn 22, Issue 1, 2005, Pages 76-78

  Zheng, Jian Qiu ^a   Ma, Zhi Wei ^a   Sun, Hui Min ^a  

^a TIANJIN MEDICAL UNIVERSITY   (China)

Author keywords

Congenital cataract; Connexin 50 gene; Linkage analysis; Microsatellite markers

Indexed keywords

CONNEXIN 50; GAP JUNCTION PROTEIN; GLYCINE; UNCLASSIFIED DRUG; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINA; CONGENITAL CATARACT; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC LINKAGE; GJA8 GENE; HETEROZYGOSITY; HUMAN; LINKAGE ANALYSIS; MICROSATELLITE MARKER; PHENOTYPE;

BASE SEQUENCE; CATARACT; CHINA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CONNEXINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 13544273361     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Shiels A, Mackay D, Ionides A, et al. A missense mutation in the human connexin 50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome Iq. Am J Hum Genet, 1998, 62: 526-532.
2. Berry V, Mackay D, Khalig S, et al. Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin. Hum Genet, 1999, 105: 168-170.
3. Polyakov AV, Shagina IA, Khlebnikova OV, et al. Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. Clin Genet, 2001, 60: 476-478.
4. Willoughby CE, Arab S, Gandhi R, et al. A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. J Med Genet, 2003, 40: e124.
5. Pal JD, Berthoud VM, Beyer EC, et al. Molecular mechanism underlying a Cx50-linked congenital cataract. Am J Physiol, 1999, 276: 1443-1446.