• Yue Yang, Nan Jiang, Jing Qun Mai, Shuo Yang, Yuanyuan Xiao, and Shanling Liu.
• Department of Obstetrics and Gynecology, West China Second Hospital of Sichuan University, Chengdu, China.
• Medicine (Baltimore). 2023 Aug 4; 102 (31): e34448e34448.

RationaleDyschromatosis universalis hereditaria (DUH) is an uncommon form of pigmented genodermatosis that is typically inherited autosomally and dominantly. In the previous study, the pathogenic genes of DUH have been identified in ATP-binding cassette subfamily B, member 6 and SASH1. However, the mutational screening of the causative gene remains incomplete and still lacks sufficient proof in the etiology.Patient ConcernsA 2-generation Chinese family clinically diagnosed with DUH were enrolled. They showed pigmented spots from their childhood and came to the hospital for medical advice and genetic analysis. We found a novel mutation c.1757T > C (p.I586T) of SASH1 in 3 affected family members by whole-exome sequencing.DiagnosesGenetic outcomes and clinical examinations confirmed the diagnosis of DUH in 3 family members with lentiginous syndrome.Interventions And OutcomesUsing whole-exome sequencing and sanger sequencing technologies, we identified a novel mutation c.1757T > C (p.I586T) of SASH1 that co-segregated in 3 afflicted family members but not in the normal individuals. Significantly, c.1757T > C (p.I586T) is a novel mutation which had not been previously reported. The same codon position in SASH1 (c.1758C > G, p.I586M) has been reported in a Japanese man, and he showed identical phenotype compared to our study participants.LessonsOur study broadens the spectrum of DUH mutations and provides more genetic characteristics of DUH in understanding its etiology. Furthermore, we demonstrated the diagnostic accuracy of whole-exome sequencing for inherited skin diseases and provided new information for etiological study.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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