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A novel missense variant in OTUD5 causes X-linked multiple congenital anomalies-neurodevelopmental syndrome.

Weifang TianHaiyu LiYing LiJing GuoHanduo WangBo YangPengyun LiXueyin CuiLing Liu
Published in: Molecular genetics & genomic medicine (2023)
We describe OTUD5 gene variation in the Chinese population, with the first report of this variant. Additionally, we provide a comprehensive summary of all published cases of MCAND to date, in order to elucidate the primary clinical features of the syndrome and the variability in phenotype severity. This case expands the genetic and clinical phenotypic spectrum of OTUD5-associated MCAND.
Keyphrases
  • genome wide
  • copy number
  • case report
  • intellectual disability
  • systematic review