Two Novel Variants and One Previously Reported Variant in the Gene in Chinese Hailey-Hailey Disease Patients

Overview

Journal Mol Syndromol

Date 2021 Jun 28

PMID 34177430

Citations 1

Authors

Zhen Xiao

Zhi-Gang Liu

Xiao-Liang Ou Yang

Si-Min Yu

Jian-Rong Zeng

Chun-Ming Li

Affiliations

Soon will be listed here.

Abstract

Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis. It is characterized clinically by recurrent erosions, blisters and erythematous plaques at the sites of friction and intertriginous areas. The pathogenic gene of HHD was reported to be the ATPase calcium-transporting type 2C member 1 gene (). In this study, genomic DNA polymerase chain reaction (PCR) and direct sequencing of were performed from 3 Chinese pedigrees and 4 sporadic cases of HHD. We detected 3 heterozygous mutations, including 2 novel mutations (c.1673_1674insGTTG and c.2225A>G) and 1 recurrent nonsense mutation (c.1402C>T; NM_014382.4). The gene was also screened in the asymptomatic members of pedigrees. Our results would further expand the mutation spectrum of the gene and be helpful in the genetic counseling of patients with HHD.

Citing Articles

Two Novel and a Recurrent Mutations in Chinese Population with Hailey-Hailey Disease.

Zhang D, Xiao Z, Ouyang X, Wang X, Zhu Y, Yu S Clin Cosmet Investig Dermatol. 2023; 16:1545-1548.

PMID: 37342538 PMC: 10278650. DOI: 10.2147/CCID.S417792.

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