Ectopia lentis in a consanguineous Pakistani family and a novel locus on chromosome 8q

Haiba Kaul, Sheikh Amer Riazuddin, Zaheeruddin A. Qazi, Idrees A. Nasir, Ahmad U. Zafar, Shaheen N. Khan, Tayyab Husnain, Javed Akram, J. Fielding Hejtmancik, Sheikh Riazuddin

Research output: Contribution to journalArticle

Abstract

Objective: To investigate the genetic basis and molecular characteristics of the isolated form of ectopia lentis. Methods: We ascertained a consanguineous Pakistani family with multiple individuals with ectopia lentis. All affected as well as unaffected members with isolated ectopia lentis underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide scan was completed with 382 polymorphic microsatellite markers, and logarithm of odds (LOD) scores were calculated. Results: Maximum 2-point LOD scores of 5.68 and 2.88 at θ=0 were obtained for markers D8S285 and D8S260, respectively, during the genome-wide scan. Additional microsatellite markers refined the disease locus to a 16.96-cM (14.07-Mb) interval flanked by D8S1737 proximally and D8S1117 distally. Conclusions:Wereportonanewlocus for nonsyndromic autosomal recessive ectopia lentis on chromosome 8q11.23-q13.2 in a consanguineous Pakistani family. Clinical Relevance: Identification of genetic loci and genes involved in ectopia lentis will enhance our understanding of the disease at a molecular level, leading to better genetic counseling and family screening and possible future development of better treatment.

Original languageEnglish (US)
Pages (from-to)1046-1049
Number of pages4
JournalArchives of Ophthalmology
Volume128
Issue number8
DOIs
StatePublished - Aug 2010
Externally publishedYes

Fingerprint

Ectopia Lentis
Chromosomes
Microsatellite Repeats
Genome
Genetic Loci
Genetic Counseling
Molecular Biology
DNA
Genes
Familial ectopia lentis

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Ectopia lentis in a consanguineous Pakistani family and a novel locus on chromosome 8q. / Kaul, Haiba; Riazuddin, Sheikh Amer; Qazi, Zaheeruddin A.; Nasir, Idrees A.; Zafar, Ahmad U.; Khan, Shaheen N.; Husnain, Tayyab; Akram, Javed; Hejtmancik, J. Fielding; Riazuddin, Sheikh.

In: Archives of Ophthalmology, Vol. 128, No. 8, 08.2010, p. 1046-1049.

Research output: Contribution to journalArticle

Kaul, H, Riazuddin, SA, Qazi, ZA, Nasir, IA, Zafar, AU, Khan, SN, Husnain, T, Akram, J, Hejtmancik, JF & Riazuddin, S 2010, 'Ectopia lentis in a consanguineous Pakistani family and a novel locus on chromosome 8q', Archives of Ophthalmology, vol. 128, no. 8, pp. 1046-1049. https://doi.org/10.1001/archophthalmol.2010.165
Kaul, Haiba ; Riazuddin, Sheikh Amer ; Qazi, Zaheeruddin A. ; Nasir, Idrees A. ; Zafar, Ahmad U. ; Khan, Shaheen N. ; Husnain, Tayyab ; Akram, Javed ; Hejtmancik, J. Fielding ; Riazuddin, Sheikh. / Ectopia lentis in a consanguineous Pakistani family and a novel locus on chromosome 8q. In: Archives of Ophthalmology. 2010 ; Vol. 128, No. 8. pp. 1046-1049.
@article{5d06ccf9c16c4316aeb50c561d6ff553,
title = "Ectopia lentis in a consanguineous Pakistani family and a novel locus on chromosome 8q",
abstract = "Objective: To investigate the genetic basis and molecular characteristics of the isolated form of ectopia lentis. Methods: We ascertained a consanguineous Pakistani family with multiple individuals with ectopia lentis. All affected as well as unaffected members with isolated ectopia lentis underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide scan was completed with 382 polymorphic microsatellite markers, and logarithm of odds (LOD) scores were calculated. Results: Maximum 2-point LOD scores of 5.68 and 2.88 at θ=0 were obtained for markers D8S285 and D8S260, respectively, during the genome-wide scan. Additional microsatellite markers refined the disease locus to a 16.96-cM (14.07-Mb) interval flanked by D8S1737 proximally and D8S1117 distally. Conclusions:Wereportonanewlocus for nonsyndromic autosomal recessive ectopia lentis on chromosome 8q11.23-q13.2 in a consanguineous Pakistani family. Clinical Relevance: Identification of genetic loci and genes involved in ectopia lentis will enhance our understanding of the disease at a molecular level, leading to better genetic counseling and family screening and possible future development of better treatment.",
author = "Haiba Kaul and Riazuddin, {Sheikh Amer} and Qazi, {Zaheeruddin A.} and Nasir, {Idrees A.} and Zafar, {Ahmad U.} and Khan, {Shaheen N.} and Tayyab Husnain and Javed Akram and Hejtmancik, {J. Fielding} and Sheikh Riazuddin",
year = "2010",
month = "8",
doi = "10.1001/archophthalmol.2010.165",
language = "English (US)",
volume = "128",
pages = "1046--1049",
journal = "JAMA Ophthalmology",
issn = "2168-6165",
publisher = "American Medical Association",
number = "8",

}

TY - JOUR

T1 - Ectopia lentis in a consanguineous Pakistani family and a novel locus on chromosome 8q

AU - Kaul, Haiba

AU - Riazuddin, Sheikh Amer

AU - Qazi, Zaheeruddin A.

AU - Nasir, Idrees A.

AU - Zafar, Ahmad U.

AU - Khan, Shaheen N.

AU - Husnain, Tayyab

AU - Akram, Javed

AU - Hejtmancik, J. Fielding

AU - Riazuddin, Sheikh

PY - 2010/8

Y1 - 2010/8

N2 - Objective: To investigate the genetic basis and molecular characteristics of the isolated form of ectopia lentis. Methods: We ascertained a consanguineous Pakistani family with multiple individuals with ectopia lentis. All affected as well as unaffected members with isolated ectopia lentis underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide scan was completed with 382 polymorphic microsatellite markers, and logarithm of odds (LOD) scores were calculated. Results: Maximum 2-point LOD scores of 5.68 and 2.88 at θ=0 were obtained for markers D8S285 and D8S260, respectively, during the genome-wide scan. Additional microsatellite markers refined the disease locus to a 16.96-cM (14.07-Mb) interval flanked by D8S1737 proximally and D8S1117 distally. Conclusions:Wereportonanewlocus for nonsyndromic autosomal recessive ectopia lentis on chromosome 8q11.23-q13.2 in a consanguineous Pakistani family. Clinical Relevance: Identification of genetic loci and genes involved in ectopia lentis will enhance our understanding of the disease at a molecular level, leading to better genetic counseling and family screening and possible future development of better treatment.

AB - Objective: To investigate the genetic basis and molecular characteristics of the isolated form of ectopia lentis. Methods: We ascertained a consanguineous Pakistani family with multiple individuals with ectopia lentis. All affected as well as unaffected members with isolated ectopia lentis underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide scan was completed with 382 polymorphic microsatellite markers, and logarithm of odds (LOD) scores were calculated. Results: Maximum 2-point LOD scores of 5.68 and 2.88 at θ=0 were obtained for markers D8S285 and D8S260, respectively, during the genome-wide scan. Additional microsatellite markers refined the disease locus to a 16.96-cM (14.07-Mb) interval flanked by D8S1737 proximally and D8S1117 distally. Conclusions:Wereportonanewlocus for nonsyndromic autosomal recessive ectopia lentis on chromosome 8q11.23-q13.2 in a consanguineous Pakistani family. Clinical Relevance: Identification of genetic loci and genes involved in ectopia lentis will enhance our understanding of the disease at a molecular level, leading to better genetic counseling and family screening and possible future development of better treatment.

UR - http://www.scopus.com/inward/record.url?scp=77955437318&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77955437318&partnerID=8YFLogxK

U2 - 10.1001/archophthalmol.2010.165

DO - 10.1001/archophthalmol.2010.165

M3 - Article

VL - 128

SP - 1046

EP - 1049

JO - JAMA Ophthalmology

JF - JAMA Ophthalmology

SN - 2168-6165

IS - 8

ER -