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Mol Vis. 2010 Feb 16;16:240-5.

A new locus for autosomal recessive congenital cataract identified in a Pakistani family.

Author information

1
National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.

Abstract

PURPOSE:

To identify the disease locus for autosomal recessive congenital cataract in a consanguineous Pakistani family.

METHODS:

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.

RESULTS:

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 theta=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.

CONCLUSIONS:

We have identified a new locus for autosomal recessive congenital cataract, localized to chromosome 7q21.11-q31.1 in a consanguineous Pakistani family.

PMID:
20161816
PMCID:
PMC2822550
[Indexed for MEDLINE]
Free PMC Article

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