Produção Nacional
Revisado por pares
Novel homozygous nonsense TMC8 mutation detected in patients with epidermodysplasia verruciformis from a Brazilian family
2007; Oxford University Press; Volume: 157; Issue: 4 Linguagem: Inglês
10.1111/j.1365-2133.2007.08123.x
ISSN1365-2133
AutoresPeter L. Rady, Walmar Roncalli Pereira de Oliveira, Qin He, Cyro Festa, Evandro A. Rivitti, Stephen B. Tucker, Stephen K. Tyring,
Tópico(s)Polyomavirus and related diseases
ResumoConflicts of interest: none declared. Sir, Persistent infection with a characteristic group of human papilloma viruses in epidermodysplasia verruciformis (EV‐HPVs) is due to an uncharacterized immunogenetic deficiency resulting in lack of clearance of the EV‐HPV‐infected keratinocytes.1, 2 Recently two susceptibility loci were identified. The first susceptibility locus (EV1) for EV was mapped to a region of chromosome 17 and the second susceptibility locus for EV was mapped to chromosome 2 (EV2).3 In the EV1 locus, two EV susceptibility genes (TMC6 and TMC8) have recently been identified.4 The TMC6 and TMC8 proteins have been found to be localized in the endoplasmic reticulum and they belong to the transmembrane channel (TMC) gene family.5, 6 It is still an enigma how TMC6 and TMC8 genes are involved in the innate or adaptive immune responses to control EV‐HPV infection in epidermal keratinocytes. Several articles have reported EV‐associated mutations of the TMC6 and TMC8 in patients of different ethnic origins.4, 7, 8 In this report we describe a novel nonsense TMC8 mutation in three patients with EV from a Brazilian family.
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