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

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 sc...

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Autores principales: Kaul, Haiba, Riazuddin, S. Amer, Shahid, Mariam, Kousar, Samra, Butt, Nadeem H., Zafar, Ahmad U., Khan, Shaheen N., Husnain, Tayyab, Akram, Javed, Hejtmancik, J. Fielding, Riazuddin, Sheikh
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846848/
https://www.ncbi.nlm.nih.gov/pubmed/20361013
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author Kaul, Haiba
Riazuddin, S. Amer
Shahid, Mariam
Kousar, Samra
Butt, Nadeem H.
Zafar, Ahmad U.
Khan, Shaheen N.
Husnain, Tayyab
Akram, Javed
Hejtmancik, J. Fielding
Riazuddin, Sheikh
author_facet Kaul, Haiba
Riazuddin, S. Amer
Shahid, Mariam
Kousar, Samra
Butt, Nadeem H.
Zafar, Ahmad U.
Khan, Shaheen N.
Husnain, Tayyab
Akram, Javed
Hejtmancik, J. Fielding
Riazuddin, Sheikh
author_sort Kaul, Haiba
collection PubMed
description 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.
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spelling pubmed-28468482010-04-01 Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family Kaul, Haiba Riazuddin, S. Amer Shahid, Mariam Kousar, Samra Butt, Nadeem H. Zafar, Ahmad U. Khan, Shaheen N. Husnain, Tayyab Akram, Javed Hejtmancik, J. Fielding Riazuddin, Sheikh Mol Vis Research Article 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. Molecular Vision 2010-03-24 /pmc/articles/PMC2846848/ /pubmed/20361013 Text en Copyright © 2010 Molecular Vision. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Kaul, Haiba
Riazuddin, S. Amer
Shahid, Mariam
Kousar, Samra
Butt, Nadeem H.
Zafar, Ahmad U.
Khan, Shaheen N.
Husnain, Tayyab
Akram, Javed
Hejtmancik, J. Fielding
Riazuddin, Sheikh
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
title Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
title_full Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
title_fullStr Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
title_full_unstemmed Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
title_short Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
title_sort autosomal recessive congenital cataract linked to epha2 in a consanguineous pakistani family
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846848/
https://www.ncbi.nlm.nih.gov/pubmed/20361013
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