Isaac Bul Deng

Abstract Homozygous 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.

Abstract Homozygous 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.

Supporting Information Filename Description mds29677-sup-0001-Supinfo.docxWord 2007 document , 386.6 KB Figure S1. Distribution of patients with parkinsonism and dystonia. Figure S2. Types and individual variants in DNAJC12. (A) Types of mutations in DNAJC12. Note that “others” on the pie chart refers to compound heterozygous variants with two different types of mutations. (B) Variants in DNAJC12 gene/protein.