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

Huang,Xuan; Xie,Yingjun; Fang,Qun

doi:10.3892/br.2017.923

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

Authors:
- Xuan Huang
- Yingjun Xie
- Qun Fang
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Affiliations: Department of Obstetrics and Gynecology, First Affiliated Hospital of Sun Yat‑sen University, Guangzhou, Guangdong 510080, P.R. China, Key Laboratory for Major Obstetric Diseases of Guangdong, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, P.R. China
Published online on: June 7, 2017 https://doi.org/10.3892/br.2017.923
Pages: 51-55

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Abstract

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.

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