A new locus for autosomal recessive congenital cataract identified in a Pakistani family
Open Access
- 16 February 2010
- journal article
- Vol. 16, 240-245
Abstract
To identify the disease locus for autosomal recessive congenital cataract in a consanguineous Pakistani family. All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and logarithm of odds (LOD) scores were calculated. The clinical records and ophthalmological examinations suggested that all affected individuals have nuclear cataracts. Maximum LOD scores of 5.01, 4.38, and 4.17 at θ=0 were obtained with markers D7630, D7S657, and D7S515, respectively. Fine mapping refined the critical interval and suggested that markers in a 27.78 cM (27.96 Mb) interval are flanked by markers D7S660 and D7S799, which co-segregate with the disease phenotype in family PKCC108. We have identified a new locus for autosomal recessive congenital cataract, localized to chromosome 7q21.11-q31.1 in a consanguineous Pakistani family.Keywords
This publication has 25 references indexed in Scilit:
- HomozygousCRYBB1Deletion Mutation Underlies Autosomal Recessive Congenital CataractInvestigative Opthalmology & Visual Science, 2007
- Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataractJournal of Medical Genetics, 2007
- Autosomal recessive juvenile onset cataract associated with mutation in BFSP1Human Genetics, 2007
- Mutations in βB3-Crystallin Associated with Autosomal Recessive Cataract in Two Pakistani FamiliesInvestigative Opthalmology & Visual Science, 2005
- A New Locus for Autosomal Recessive Nuclear Cataract Mapped to Chromosome 19q13 in a Pakistani FamilyInvestigative Opthalmology & Visual Science, 2005
- A Homozygous Splice Mutation in theHSF4Gene Is Associated with an Autosomal Recessive Congenital CataractInvestigative Opthalmology & Visual Science, 2004
- A Nonsense Mutation in the Glucosaminyl (N-acetyl) Transferase 2 Gene (GCNT2): Association with Autosomal Recessive Congenital CataractsInvestigative Opthalmology & Visual Science, 2004
- A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22American Journal of Human Genetics, 2001
- A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1qAmerican Journal of Human Genetics, 1998
- Avoiding Recomputation in Linkage AnalysisHuman Heredity, 1994