A de novo in-frame variant in the SYNCRIP gene was identified in an ASD proband from the Simons Simplex Collection in Krumm et al., 2015. Whole genome sequencing of a cohort of 180 simplex and multiplex ASD families in Guo et al., 2018 identified two rare de novo missense variants in the SYNCRIP gene in ASD probands; statistical analysis demonstrated that the probability of finding two de novo missense variants within this gene in this cohort was significantly low (P = 8.7E-07, adjusted P-value 0.02, one-tailed binomial test). De novo loss-of-function variants in the SYNCRIP gene have also been observed in individuals with developmental delay and/or intellectual disability (Rauch et al., 2012; Lelieveld et al., 2016; Deciphering Developmental Disorders Study 2017); additional phenotypic characterization of these individuals in Gillentine et al., 2021 found that one of these individuals presented with autism spectrum disorder in addition to developmental delay and intellectual disability. Genetic and phenotypic characterization of 27 individuals with SYNCRIP variants in Gillentine et al., 2021 found that affected individuals frequently presented with developmental delay/intellectual disability/specific learning disability (23/27 patients) and autism spectrum disorder (15/26 patients).
Molecular Function
This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including the apoB RNA editing-complex and survival of motor neurons (SMN) complex.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Excess of rare, inherited truncating mutations in autism.
