title: Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type.
abstract: Xeroderma pigmentosum-variant (XPV) is one type of XP, a rare autosomal recessive disorder, and caused by defects in the post replication repair machinery while nucleotide-excision repair (NER) is not impaired. In the present study, we reported a Chinese family with XPV phenotype, which was confirmed by histopathological results. Genetic variants were detected by polymerase chain reaction and exon sequencing. Furthermore, the reported molecular defects in XPV patients from previous literatures were reviewed. A homozygous c.67C>T mutation in the exon 2 of DNA polymerase eta (POLH), a novel non-sense mutation in POLH, was discovered.
authors: Department of Dermatology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310003, China.
authors: Xiaoyan
authors: X
authors: Liu
authors: Xianning
authors: X
authors: Zhang
authors: Jianjun
authors: J
authors: Qiao
authors: Hong
authors: H
authors: Fang
mesh_terms: D000328:Adult; D002681:China; D018389:Codon, Nonsense; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D014983:Xeroderma Pigmentosum / Q000235:genetics* / Q000473:pathology; D000099270:Y-Family DNA Polymerases
chemical_list: D018389:Codon, Nonsense; D004259:DNA-Directed DNA Polymerase; C112338:Rad30 protein; D000099270:Y-Family DNA Polymerases
keywords: POLH; Xeroderma Pigmentosum
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