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Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.

ABSTRACT: PURPOSE: To investigate the genetic basis of autosomal recessive congenital cataracts in a consanguineous Pakistani family. METHODS: All affected individuals underwent a detailed ophthalmological and clinical examination. Blood samples were collected and genomic DNAs were extracted. A genome-wide scan was performed with polymorphic microsatellite markers. Logarithm of odds (LOD) scores were calculated, and Eph-receptor type-A2 (EPHA2), residing in the critical interval, was sequenced bidirectionally. RESULTS: The clinical and ophthalmological examinations suggested that all affected individuals have nuclear cataracts. Genome-wide linkage analyses localized the critical interval to a 20.78 cM (15.08 Mb) interval on chromosome 1p, with a maximum two-point LOD score of 5.21 at theta=0. Sequencing of EPHA2 residing in the critical interval identified a missense mutation: c.2353G>A, which results in an alanine to threonine substitution (p.A785T). CONCLUSIONS: Here, we report for the first time a missense mutation in EPHA2 associated with autosomal recessive congenital cataracts.

SUBMITTER: Kaul H 

PROVIDER: S-EPMC2846848 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.

Kaul Haiba H   Riazuddin S Amer SA   Shahid Mariam M   Kousar Samra S   Butt Nadeem H NH   Zafar Ahmad U AU   Khan Shaheen N SN   Husnain Tayyab T   Akram Javed J   Hejtmancik J Fielding JF   Riazuddin Sheikh S  

Molecular vision 20100324

<h4>Purpose</h4>To investigate the genetic basis of autosomal recessive congenital cataracts in a consanguineous Pakistani family.<h4>Methods</h4>All affected individuals underwent a detailed ophthalmological and clinical examination. Blood samples were collected and genomic DNAs were extracted. A genome-wide scan was performed with polymorphic microsatellite markers. Logarithm of odds (LOD) scores were calculated, and Eph-receptor type-A2 (EPHA2), residing in the critical interval, was sequence  ...[more]

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