A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

• Published in: Journal of medical genetics Vol. 41; no. 8; p. e106
• Main Authors: Burdon, K P, Wirth, M G, Mackey, D A, Russell-Eggitt, I M, Craig, J E, Elder, J E, Dickinson, J L, Sale, M M
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.08.2004; BMJ Publishing Group LTD; BMJ Group
• Subjects: ADCC; Adolescent; Adult; Age; Australia; autosomal dominant congenital cataract; beaded filament structural protein-2; BFSP2; Cataract - congenital; Cataract - genetics; Cataracts; Child; Child, Preschool; Congenital diseases; connexin; Connexins - genetics; Deoxyribonucleic acid; DNA; Female; gap junction; Genes; Genes, Dominant - genetics; genetic; Genetic engineering; heat shock factor-4; HSF4; Humans; Infant; Infant, Newborn; lens; major intrinsic protein; Male; Middle Aged; MIP; Mutation; Mutation - genetics; Mutation, Missense - genetics; Online Mutation Report; paediatric; paired-like homeodomain transcription factor-3; Pedigree; Penetrance; PITX3; Proteins; Studies; Surgery; Australia
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2004.018333

Patient ascertainment and collection of genetic material The pedigree crch13 was identified through a database maintained by the Royal Children's Hospital, Melbourne, Australia and the Royal Victorian Eye and Ear Hospital, Melbourne, comprising paediatric cataract patients from south-eastern Australia with any type of lens opacity. 14 Written informed consent was obtained from all participating individuals or their guardians. Linkage analysis All individuals were genotyped at microsatellite markers representing known cataract genes and loci by the analysis of fluorescently-tagged PCR products on an ABI PRISM 310 Genetic Analyzer (Applied Biosystems).