Aliases: SGS, SKV
Chromosome No: 1
Chromosome Band: 1p36.33-p36.32
Genetic Category: Rare single gene variant
ASD Reports: 7
Recent Reports: 1
Annotated variants: 10
Associated CNVs: 6
Evidence score: 4
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Relevance to Autism
Two de novo protein-truncating variants in the SKI gene were identified in ASD probands from the Autism Sequencing Consortium (De Rubeis et al., 2014; Satterstrom et al., 2020), while additional protein-truncating variants in this gene were observed in case and control samples from the Danish iPSYCH study (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified SKI as a candidate gene with a false discovery rate (FDR) between 0.01 and 0.05 (0.01 < FDR 0.05). A de novo missense variant in the SKI gene was also observed in an ASD proband in Yuen et al., 2017.
Molecular Function
This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. Heterozygous variants in this gene are associated with Shprintzen-Goldberg syndrome (OMIM 182212), a disorder comprising craniosynostosis, a marfanoid habitus, and skeletal, neurologic, cardiovascular, and connective tissue anomalies.
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