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

Haiba Kaul, S. Amer Riazuddin, Mariam Shahid, Samra Kousar, Nadeem H. Butt, Ahmad U. Zafar, Shaheen N. Khan, Tayyab Husnain, Javed Akram, J. Fielding Hejtmancik, Sheikh Riazuddin

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68 Scopus citations


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 θ=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.

Original languageEnglish (US)
Pages (from-to)511-517
Number of pages7
JournalMolecular vision
StatePublished - 2010
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology


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