Premium
XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect
Author(s) -
Ijaz Ambreen,
Basit Sulman,
Gul Ajab,
Batool Lilas,
Hussain Abrar,
Afzal Sibtain,
Ramzan Khushnooda,
Ahmad Jamil,
Wali Abdul
Publication year - 2019
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12281
Subject(s) - xeroderma pigmentosum , genetics , founder effect , nonsense mutation , biology , mutation , gene , missense mutation , genotype , dna repair , haplotype
Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity, and increased risk of skin carcinoma. We investigated seven consanguineous XP families with nine patients from Pakistan. All the Patients exhibited typical clinical symptoms of XP since first year of life. Whole genome SNP genotyping identified a 14 Mb autozygous region segregating with the disease phenotype on chromosome 3p25.1. DNA sequencing of XPC gene revealed a founder homozygous splice site mutation (c.2251‐1G>C) in patients from six families (A–F) and a homozygous nonsense mutation (c.1399C>T; p.Gln467*) in patients of family G. This is the first report of XPC mutations, underlying XP phenotype, in Pakistani population.