Article
A novel missense variant in OTUD5 causes X-linked multiple congenital anomalies-neurodevelopmental syndrome.
Molecular genetics & genomic medicine - 1 Jan 2024
Tian Weifang, Li Haiyu, Li Ying, Guo Jing, Wang Handuo, Yang Bo, Li Pengyun, Cui Xueyin, Liu Ling
Abstract excerpt
BACKGROUND: The OTUD5 gene encodes a deubiquitinating enzyme (DUB) of the OTU family. Variants of OTUD5 are associated with X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND). The case described in this study expands the clinical and molecular spectrum of OTUD5. METHODS: Trio-based clinical exome sequencing (trio-CES) was performed on a Chinese boy with a clinical phenotype and both of his...
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