Aliases: ADDH, C160, HLD7, RPC1, RPC155, WDRTS, hRPC155
Chromosome No: 10
Chromosome Band: 10q22.3
Genetic Category: Syndromic-Rare single gene variant
Associated Syndrome(s): Hypomyelinating leukodystrophy-7 (HLD7)
ASD Reports: 11
Recent Reports: 1
Annotated variants: 14
Associated CNVs: 2
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Rare de novo variants in the POLR3A gene, including a splice-site variant, have been identified in ASD probands from multiple studies (Yuen et al., 2016; Yuen et al., 2017; Turner et al., 2017), while de novo variants in this gene have also been identified in probands presenting with intellectual disability or developmental delay (Lelieveld et al., 2016; Deciphering Developmental Disorder Study 2017). Biallelic variants in the POLR3A gene are responsible for hypomyelinating leukodystrophy-7 (HLD7; OMIM 607694), an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression (Bernard et al., 2011); a case with POLR3A-associated hypomyelinating leukodystrophy was recently described that also presented with developmental delay, intellectual disability, autism spectrum disorder, and hypodontia (Hiraide et al., 2020).
Molecular Function
The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response.
External Links
