Xeroderma pigmentosum (XP) disorder is recognized as a genetic condition inherited by autosomal recessive fashion. XP results from a defective DNA repair mechanism that significantly increases skin cancer risk. Fifteen Vietnamese patients were investigated with typical clinical manifestations of XP. Eight XP genes ( to and /) were sequenced using peripheral blood samples. Overall, three novel variants on the and genes were detected in members of two families. One novel missense variant c.388A>G (p.R130G) of was found in three patients with XP group A, two novel variants: c.680G>A (p.C227Y) and c.1652dupC (p.Gln553Profs*8) of in one patient with XP group F/G. Our study contributes to the recognition of new mutations in XP patients which have not been reported in Human Gene Mutation Database (HGMD).
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http://dx.doi.org/10.1080/17410541.2024.2393073 | DOI Listing |
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