Jordan Follett

Nov 2, 2024 | biorxiv.org | Isaac Bul Deng |Jordan Follett |Jesse Fox |Shannon Wall

AbstractHomozygous DNAJC12 c.79-2A>G (p. V27Wfs*14) loss-of-function mutations were first reported as a cause of young-onset Parkinson's disease. However, bi-allelic autosomal recessive pathogenic variants in DNAJC12 may lead to an alternative constellation of neurological features, including infantile dystonia, developmental delay, intellectual disability and neuropsychiatric disorders.