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Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis
Author(s) -
Leng Yunji,
Yan Lulu,
Feng Hongquan,
Chen Chen,
Wang Shusen,
Luo Yang,
Cao Lihua
Publication year - 2018
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.14343
Subject(s) - porokeratosis , genetics , biology , exon , sanger sequencing , gene , mutation , population , intron , hum , medicine , performance art , art history , art , environmental health
Porokeratosis comprises heterogeneous keratinization disorders that are characterized by one or more atrophic patches surrounded by a ridge‐like cornoid lamella. In this study, we evaluated seven families affected by porokeratosis and five sporadic patients of the disease in a Chinese population. We performed Sanger sequencing of exons and flanking intron–exon boundaries of mevalonate pathway genes ( MVD , MVK , PMVK and FDPS ) and of SLC 17A9 . In five familial and three sporadic patients, we detected six variations, including four novel mutations ( MVD c.1A>G; p.Met1?, c.916G>A; p.Ala306Thr, c.1013+1G>A, and PMVK c.65A>G; p.Lys22Arg) and two recurrent mutations ( MVD c.746T>C; p.Phe249Ser, and MVK c.1028T>C; p.Leu343Pro). We then applied I‐ TASSER and iGEMDOCK to assess these variants for probable functional impacts. The findings of this study extend the mutation spectrum of porokeratosis and provide further evidence for the genetic basis of this disease.