Article
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.
Molecular vision - 18 May 2009
Meyer Esther, Rahman Fatimah, Owens Jessica, Pasha Shanaz, Morgan Neil V, Trembath Richard C, Stone Edwin M, Moore Anthony T, Maher Eamonn R
Abstract excerpt
PURPOSE: To identify the molecular basis for autosomal recessively inherited congenital non-syndromic pulverulent cataracts in a consanguineous family with four affected children. METHODS: An autozygosity mapping strategy using high density SNP microarrays and microsatellite markers was employed to detect regions of homozygosity. Subsequently good candidate genes were screened for mutations by direct sequencing....
Topics
- Cataract
- Codon, Initiator
- DNA Mutational Analysis
- Family
- Genes, Recessive
- Humans
- Microsatellite Repeats
- Oligonucleotide Array Sequence Analysis
- Polymorphism, Single Nucleotide
- beta-Crystallin B Chain