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

Congenital anomalies - 1 Jan 2019

Ijaz Ambreen, Basit Sulman, Gul Ajab, Batool Lilas, Hussain Abrar, Afzal Sibtain, Ramzan Khushnooda, Ahmad Jamil, Wali Abdul

Abstract excerpt

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...

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Identifiers

PMID: 29569758
DOI: 10.1111/cga.12281

Genes

XPC

Variants

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