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The present study describes a three-generation Chinese family with one male who was diagnosed with an autism spectrum disorder (ASD) disease. The male proband presented with features of an autism spectrum disorder. Magnetic resonance imaging demonstrated an abnormal high-intensity zone in the frontal white matter. Whole-genome single nucleotide polymorphism-microarray demonstrated an interstitial 575-kb duplication of chromosome 22p12.3 that involved the LARGE gene among the six family members, which included three healthy female carriers, the affected boy and two male fetuses. Fluorescence in situ hybridization analysis, using special probes, and LARGE gene sequencing were performed, which exhibited a submicroscopic 22q13 duplication that involved the LARGE gene. Combined with a review of the literature, the present findings support the hypothesis that the 22q12.3 microduplication overlapping the LARGE gene may be a male-only affected loci, which is responsible for increasing the ASD risk.

22q12.3 microduplication overlapping the LARGE gene as a male-only affected loci responsible for increasing the risk of autism spectrum disorder