<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Clinical anophthalmia is a rare inherited disease of the eye and phenotype refers to the absence of ocular tissue in the orbit of eye. Patients may have unilateral or bilateral anophthalmia, and generally have short palpebral fissures and small orbits. Anophthalmia may be isolated or associated with a broader syndrome and may have genetic or environmental causes. However, genetic cause has been defined in only a small proportion of cases, therefore, a consanguineous Pakistani family of the Pashtoon ethnic group, with isolated clinical anophthalmia was investigated using linkage mapping. A family pedigree was created to trace the possible mode of inheritance of the disease. Blood samples were collected from affected as well as normal members of this family, and screened for disease-associated mutations. This family was analyzed for linkage to all the known loci of clinical anophthalmia, using microsatellite short tandem repeat (STR) markers. Direct sequencing was performed to find out disease-associated mutations in the candidate gene. This family with isolated clinical anophthalmia, was mapped to the <italic>SOX2</italic> gene that is located at chromosome 3q26.3-q27. However, on exonic and regulatory regions mutation screening of the <italic>SOX2</italic> gene, the disease-associated mutation was not identified. It showed that another gene responsible for development of the eye might be present at chromosome 3q26.3-q27 and needs to be identified and screened for the disease-associated mutation in this family.</p></abstract>

Clinical anophthalmia is a rare inherited disease of the eye and phenotype refers to the absence of ocular tissue in the orbit of eye. Patients may have unilateral or bilateral anophthalmia, and generally have short palpebral fissures and small orbits. Anophthalmia may be isolated or associated with a broader syndrome and may have genetic or environmental causes. However, genetic cause has been defined in only a small proportion of cases, therefore, a consanguineous Pakistani family of the Pashtoon ethnic group, with isolated clinical anophthalmia was investigated using linkage mapping. A family pedigree was created to trace the possible mode of inheritance of the disease. Blood samples were collected from affected as well as normal members of this family, and screened for disease-associated mutations. This family was analyzed for linkage to all the known loci of clinical anophthalmia, using microsatellite short tandem repeat (STR) markers. Direct sequencing was performed to find out disease-associated mutations in the candidate gene. This family with isolated clinical anophthalmia, was mapped to the SOX2 gene that is located at chromosome 3q26.3-q27. However, on exonic and regulatory regions mutation screening of the SOX2 gene, the disease-associated mutation was not identified. It showed that another gene responsible for development of the eye might be present at chromosome 3q26.3-q27 and needs to be identified and screened for the disease-associated mutation in this family.

Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Paktunkhwa,

Institute of Biomedical and Genetic Engineering (IBGE), Islamabad,

Pakistan Institute of Medical Sciences (PIMS) Islamabad,

Balkan Journal of Medical Genetics

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Clinical anophthalmia is a rare inherited disease of the eye and phenotype refers to the absence of ocular tissue in the orbit of eye. Patients may have...

Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research

Article Category: Original Article

Published Online: Aug 02, 2016

Page range: 77 - 84

DOI: https://doi.org/10.1515/bjmg-2016-0010

Keywords
Isolated clinical anophthalmia, Khyber Pukhtunkwa, Linkage analysis, Mutation screening, Pashtoon ethnic family, gene

© 2016 Walter de Gruyter GmbH, Berlin/Boston

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research

Article Category: Original Article

Published Online: Aug 02, 2016

Page range: 77 - 84

DOI: https://doi.org/10.1515/bjmg-2016-0010

KeywordsIsolated clinical anophthalmia, Khyber Pukhtunkwa, Linkage analysis, Mutation screening, Pashtoon ethnic family, gene

© 2016 Walter de Gruyter GmbH, Berlin/Boston

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Keywords
Isolated clinical anophthalmia, Khyber Pukhtunkwa, Linkage analysis, Mutation screening, Pashtoon ethnic family, gene