title: Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research.
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 theSOX2gene that is located at chromosome 3q26.3-q27. However, on exonic and regulatory regions mutation screening of theSOX2gene, 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.
authors: Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Paktunkhwa, Pakistan.
authors: S
authors: S
authors: Saleha
authors: Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
authors: M
authors: M
authors: Ajmal
authors: Pakistan Institute of Medical Sciences (PIMS) Islamabad, Pakistan.
authors: S
authors: S
authors: Zafar
authors: Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
authors: A
authors: A
authors: Hameed
keywords: Isolated clinical anophthalmia; Khyber Pukhtunkwa; Linkage analysis; Mutation screening; Pashtoon ethnic family; SOX2 gene