A Novel 1.0 Mb Duplication of Chromosome 8p22-21.3 in a Patient With Autism Spectrum Disorder

Ping Dong; Qiong Xu; Yu An; Bing-Rui Zhou; Ping Lu; Ren-Chao Liu; Xiu Xu

doi:10.1177/2329048X15580673

A Novel 1.0 Mb Duplication of Chromosome 8p22-21.3 in a Patient With Autism Spectrum Disorder

Child Neurol Open. 2015 Jul 3;2(2):1-6. doi: 10.1177/2329048X15580673. eCollection 2015 Apr-Jun.

Authors

Ping Dong^{1

2}, Qiong Xu^{1

2}, Yu An³, Bing-Rui Zhou¹, Ping Lu¹, Ren-Chao Liu⁴, Xiu Xu¹

Affiliations

¹ Department of Child Healthcare, Children's Hospital of Fudan University, Shanghai, People's Republic of China.
² Co-first authors.
³ Institute of Biomedical Sciences and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, People's Republic of China.
⁴ The R&D of Molecular Genetics Laboratory, Children's Hospital of Fudan University, Shanghai, People's Republic of China.

Abstract

Autism spectrum disorders are a group of neurodevelopmental disorders with a strong genetic etiology. Cytogenetic abnormalities have been detected in 5% to 10% of the patients with autism spectrum disorders. In this study, the authors present the clinical and array-based comparative genomic hybridization evaluation of a 4-year-old male with autism spectrum disorder and mental retardation. The patient was found to carry a de novo duplication of chromosome 8p22-21.3 of 1.0 Mb as ascertained by quantitative polymerase chain reaction, and this region encompassed 3 genes including Pleckstrin and Sec7 domains-containing protein 3 (PSD3), SH2 domain-containing 4A (SH2D4A), and Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1 (CSGALNACT1). This represents the smallest rearrangement of chromosome 8p as yet found in a patient with autism spectrum disorder, but the significance of this mutation is still ambiguous.

Keywords: array-comparative genomic hybridization; autism spectrum disorder; chromosome 8p22-21.3.