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Int J Med Sci. 2013 Apr 21;10(6):766-70. doi: 10.7150/ijms.6095. Print 2013.

Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type.

Author information

1
Department of Dermatology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310003, China.

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.

KEYWORDS:

POLH; Xeroderma Pigmentosum

PMID:
23630442
PMCID:
PMC3638301
DOI:
10.7150/ijms.6095
[Indexed for MEDLINE]
Free PMC Article

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