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. 2022 Oct 3;132(19):e159806. doi: 10.1172/JCI159806

Figure 2. Phenotypic correlation of GIGYF1 heterozygous LGD mutations.

Figure 2

(A) Comparison of the SCQ and RBS-R scores in children with ASD with GIGYF1 LGD variants and all children with ASD in SPARK. (B) Comparison of cognitive impairment (CI) occurrence rate among children with ASD with GIGYF1 LGD variants, children with ASD with LGD variants in known high-confidence genes, and all SPARK children with ASD. (C) Comparison of the frequency of behavior problems, developmental delays, and neuropsychiatric problems between children with ASD with and without GIGYF1 LGD variants. The details of specific phenotype items for each phenotype group in the plot are described in Supplemental Table 9. (D) Comparison of developmental delay occurrence rate among children without ASD with GIGYF1 LGD variants and all children without ASD in SPARK. (E) Down sampling analysis of SRS t score in siblings without ASD from the SSC cohort. (F) Comparison of the frequency of behavior problems, developmental delay, and neuropsychiatric problems between nonASD parents with and without GIGYF1 LGD variants. The details of specific phenotype items for each phenotype group in the plot are described in Supplemental Table 9.