Relevance to Autism

Gillentine et al., 2021 reported six previously unpublished individuals with likely gene-disruptive (LGD) variants in the HNRNPUL2 gene, including three ASD probands from the SPARK cohort with de novo LGD variants; neurodevelopmental abnormalities (developmental delay, intellectual disability, and/or specific learning disability), motor delay, delayed speech and language development or speech articulation difficulties, behavioral abnormalities, and autism spectrum disorder were frequently observed in this cohort. A de novo missense variant in this gene had previously been identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). A two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases for the SPARK cohort, in Zhou et al., 2022 identified HNRNPUL2 as a gene reaching exome-wide significance (P < 2.5E-06); association of HNRNPUL2 with ASD risk was primarily driven by de novo variants.

Molecular Function

Enables RNA binding activity. Located in nucleoplasm

External Links

References