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

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 Au...

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Bibliographic Details
Published in:Journal of medical genetics 2004-08, Vol.41 (8), p.e106-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: Article
Language:English
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
Citations: Items that cite this one
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Description
Summary: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).
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.2004.018333