Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability.
Sara A LewisSomayeh BakhtiariJennifer HeimPatricia CornejoJames LiuAris HuangAndrew MusmackerSheng Chih JinKaya BilguvarSergio R Padilla-LopezMichael C KruerPublished in: Neurology. Genetics (2021)
Our findings support a functional expansion of this gene to a role in motor dysfunction. Although ZDHHC15 mutations represent a rare cause of neurodevelopmental disability, candidate variants need to be carefully assessed before pathogenicity can be determined.