XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect

ABSTRACT 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. Al...

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Published in:Congenital anomalies 2019-01, Vol.59 (1), p.18-21
Main Authors: Ijaz, Ambreen, Basit, Sulman, Gul, Ajab, Batool, Lilas, Hussain, Abrar, Afzal, Sibtain, Ramzan, Khushnooda, Ahmad, Jamil, Wali, Abdul
Format: Article
Language:English
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Summary:ABSTRACT 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.
ISSN:0914-3505
1741-4520
DOI:10.1111/cga.12281