AUTHOR=Wu Nan , Tang Lili , Li Xiuxiu , Dai Yuwei , Zheng Xiaodong , Gao Min , Wang Peiguang 

TITLE=Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis

JOURNAL=Frontiers in Genetics

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.00841

DOI=10.3389/fgene.2020.00841

ISSN=1664-8021

ABSTRACT=<p>Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by mottled hyperpigmented and hypopigmented macules. <italic>SASH1</italic> and <italic>ABCB6</italic> have been identified as the causative genes for this disorder. We performed whole exome sequencing on a Chinese family with DUH and genotype-phenotype correlation analysis in DUH and lentiginous phenotype patients. A novel heterozygous missense mutation p.Q518P in <italic>SASH1</italic> gene was detected in this family. A majority of patients with <italic>SASH1</italic> mutations presented as a distinct clinical phenotype clearly different from that in patients with <italic>ABCB6</italic> mutations. Our findings further enrich the reservoir of <italic>SASH1</italic> mutations in DUH. The clinical phenotypic difference between <italic>SASH1</italic> and <italic>ABCB6</italic> variants is suggestive of a close phenotype-genotype link in DUH.</p>