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

Haiba Kaul, S. Amer Riazuddin, Afshan Yasmeen, Sadia Mohsin, Mohsin Khan, Idrees A. Nasir, Shaheen N. Khan, Tayyab Husnain, Javed Akram, J. Fielding Hejtmancik, Sheikh Riazuddin

Research output: Contribution to journalArticlepeer-review

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

Original languageEnglish (US)
Pages (from-to)240-245
Number of pages6
JournalMolecular vision
Volume16
StatePublished - 2010
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

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