XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.
Base Sequence
Child
Child, Preschool
Chromosomes, Human, Pair 3
Consanguinity
DNA-Binding Proteins
/ genetics
Family
Female
Founder Effect
Gene Expression
Genome, Human
Homozygote
Humans
Infant
Male
Mutation
Pakistan
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Skin
/ metabolism
Xeroderma Pigmentosum
/ diagnosis
Pakistani
XPC
autosomal recessive
founder mutation
xeroderma pigmentosum
Journal
Congenital anomalies
ISSN: 1741-4520
Titre abrégé: Congenit Anom (Kyoto)
Pays: Australia
ID NLM: 9306292
Informations de publication
Date de publication:
Jan 2019
Jan 2019
Historique:
received:
16
12
2017
revised:
14
03
2018
accepted:
18
03
2018
pubmed:
24
3
2018
medline:
13
4
2019
entrez:
24
3
2018
Statut:
ppublish
Résumé
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.
Substances chimiques
DNA-Binding Proteins
0
XPC protein, human
156533-34-5
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
18-21Subventions
Organisme : Higher Education Commission (HEC), Islamabad, Pakistan
ID : 5265/NRPU/HEC/2016
Organisme : Alexander-von-Humboldt Foundation, Germany
Organisme : ORIC-BUITEMS
Informations de copyright
© 2018 Japanese Teratology Society.