Aliases: IGF, IGF-I, IGFI, MGF
Chromosome No: 12
Chromosome Band: 12q23.2
Genetic Category: Functional-Rare single gene variant
ASD Reports: 8
Recent Reports: 1
Annotated variants: 20
Associated CNVs: 2
Evidence score: 3
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Relevance to Autism
Rare de novo non-coding variants in the IGF1 gene have been identified in ASD probands in multiple studies (Yuen et al., 2016; Yuen et al., 2017; Turner et al., 2017), while a de novo missense variant in this gene was identified in a female ASD proband from a cohort of 100 Vietnamese children with ASD (Tran et al., 2020). Differences in IGF1 levels in ASD cases compared to controls have been reported in cerebrospinal fluid (Riikonen et al., 2006), blood (Mills et al., 2007), and the anterior cingulate cortex (Sciara et al., 2020).
Molecular Function
The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency.
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