XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect
| Autor: | Khushnooda Ramzan, Sibtain Afzal, Lilas Batool, Abdul Wali, Abrar Hussain, Ambreen Ijaz, Ajab Gul, Sulman Basit, Jamil Ahmad |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Genetics Embryology Mutation 030219 obstetrics & reproductive medicine Splice site mutation Xeroderma pigmentosum Nonsense mutation General Medicine Consanguinity 030105 genetics & heredity Biology Gene mutation medicine.disease_cause medicine.disease 03 medical and health sciences 0302 clinical medicine Pediatrics Perinatology and Child Health medicine Gene Developmental Biology Founder effect |
| Zdroj: | Congenital Anomalies. 59:18-21 |
| ISSN: | 0914-3505 |
| DOI: | 10.1111/cga.12281 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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