Duijkers et al., 2019 reported four individuals with de novo variants in the HNRNPR gene that presented with multisystem developmental defects including abnormalities of the brain and skeleton, dysmorphic facies, brachydactyly, seizures, and hypoplastic external genitalia; stereotypic movements were observed in two of these individuals, while autism spectrum disorder (pervasive developmental disorder) in addition to stereotypic movements was reported in a third. Gillentine et al., 2021 reported five previously unpublished individuals with HNRNPR variants; autism spectrum disorder was reported in two of these individuals, while autistic traits was reported in a third. De novo missense variants in HNRNPR have also been identified in ASD probands from the Autism Sequencing Consortium (De Rubeis et al., 2014) and the Simons Simplex Collection (Satterstrom et al., 2020).
Molecular Function
This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans
