Open AccessNew and Inherited STAT1 Mutations in a Chinese Family with Chronic Mucocutaneous Candidiasis: A Case Report
Author(s) -
Xiaofei Xu,
Wenxia Meng,
Feng Lu,
Wei Guo
Publication year - 2020
Publication title -
iranian journal of public health
Language(s) - English
Resource type - Journals
eISSN - 2251-6093
pISSN - 2251-6085
DOI - 10.18502/ijph.v49i6.3369
Subject(s) - chronic mucocutaneous candidiasis , mutation , mucocutaneous zone , genetics , stat1 , gene , genotype , biology , medicine , disease
A mild clinical Chronic Mucocutaneous Candidiasis (CMC) phenotype with STAT1 transcription factor mutation has been identified in a Chinese family. It is a rare variant in STAT1 (NM_0073315.3c.1175T>C Met392Thr). Specifically, it is a heterozygous mutation. To date, the pathogenicity of this variant in STAT1 (NM_0073315.3c.1175T>C Met392Thr) for CMC has not been reported in the Human Gene Mutation Database. Thus, this is the first report about STAT1 mutation found in CMC patients from Chinese ethnic group. This study also shows the mutation on the DNA-binding domain of STAT1 for the first time. The findings will broaden the spectrum of STAT1 mutations and facilitate genetic diagnosis by the oral medicine specialists.