A Novel Microduplication Spanning Exons 8-16 of ATP2C1 That Was Undetectable by Standard Sanger Sequencing in a Japanese Patient With Hailey-Hailey Disease.

ABSTRACT: Hailey-Hailey disease (HHD) is genetic skin disorder characterized by repeated and exacerbated skin lesions in friction regions. ATP2C1, encoding SPCA1, was demonstrated to be the responsible gene for HHD pathogenesis. However, for some cases, no ATP2C1 mutation could be determined by standard Sanger sequencing, thereby obscuring the cause and diagnosis of HHD. In this study, we investigated the possibility that HHD is caused by complex ATP2C1 defects using multiplex ligation-dependent probe amplification (MLPA) analysis for 10 of 50 cases in our institute without ATP2C1 mutations. In one female Japanese patient and her father, who also show HHD, MLPA followed by polymerase chain reaction (PCR) analyses revealed a novel duplication of exons 8-16 of ATP2C1

SUBMITTER: Teye K 

PROVIDER: S-EPMC7498616 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature