Frontiers in Genetics (Aug 2020)
Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis
- Nan Wu,
- Nan Wu,
- Nan Wu,
- Nan Wu,
- Lili Tang,
- Lili Tang,
- Lili Tang,
- Lili Tang,
- Xiuxiu Li,
- Xiuxiu Li,
- Xiuxiu Li,
- Xiuxiu Li,
- Yuwei Dai,
- Yuwei Dai,
- Yuwei Dai,
- Yuwei Dai,
- Xiaodong Zheng,
- Xiaodong Zheng,
- Xiaodong Zheng,
- Xiaodong Zheng,
- Min Gao,
- Min Gao,
- Min Gao,
- Min Gao,
- Peiguang Wang,
- Peiguang Wang,
- Peiguang Wang,
- Peiguang Wang
Affiliations
- Nan Wu
- Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Nan Wu
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Nan Wu
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Nan Wu
- Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China
- Lili Tang
- Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Lili Tang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Lili Tang
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Lili Tang
- Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China
- Xiuxiu Li
- Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Xiuxiu Li
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Xiuxiu Li
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Xiuxiu Li
- Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China
- Yuwei Dai
- Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Yuwei Dai
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Yuwei Dai
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Yuwei Dai
- Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China
- Xiaodong Zheng
- Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Xiaodong Zheng
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Xiaodong Zheng
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Xiaodong Zheng
- Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China
- Min Gao
- Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Min Gao
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Min Gao
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Min Gao
- Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China
- Peiguang Wang
- Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Peiguang Wang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Peiguang Wang
- Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China
- Peiguang Wang
- Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China
- DOI
- https://doi.org/10.3389/fgene.2020.00841
- Journal volume & issue
-
Vol. 11
Abstract
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by mottled hyperpigmented and hypopigmented macules. SASH1 and ABCB6 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 SASH1 gene was detected in this family. A majority of patients with SASH1 mutations presented as a distinct clinical phenotype clearly different from that in patients with ABCB6 mutations. Our findings further enrich the reservoir of SASH1 mutations in DUH. The clinical phenotypic difference between SASH1 and ABCB6 variants is suggestive of a close phenotype-genotype link in DUH.
Keywords
