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

Research output: Contribution to journalArticlepeer-review

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 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
Volume16
StatePublished - 2010

ASJC Scopus subject areas

  • Ophthalmology

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