Six de novo deletions and four de novo loss-of-function point mutations in the PSMD12 gene were identified in unrelated individuals presenting with a syndromic neurodevelopmental disorder characterized by intellectual disability (Kury et al., 2017). Of the four individuals with de novo loss-of-function mutations, two were diagnosed with autism or autistic spectrum disorder (a proband from the Simons Simplex Collection and a case from Baylor Genetics Laboratories, respectively), while another individual from Boston Children's Hospital presented with autistic behavior.
Molecular Function
The protein encoded by this gene acts as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
