Int J Med Sci 2013; 10(6):766-770. doi:10.7150/ijms.6095
Short Research Communication
Identification of a Novel Nonsense Mutation in POLH in a Chinese Pedigree with Xeroderma Pigmentosum, Variant Type
1. Department of Dermatology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.
2. Department of Biochemistry and Genetics, Institute of Cell Biology, Zhejiang University, Hangzhou, 310058, China.
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
Liu X, Zhang X, Qiao J, Fang H. Identification of a Novel Nonsense Mutation in POLH in a Chinese Pedigree with Xeroderma Pigmentosum, Variant Type. Int J Med Sci 2013; 10(6):766-770. doi:10.7150/ijms.6095. Available from http://www.medsci.org/v10p0766.htm