Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8309684 | Clinica Chimica Acta | 2018 | 4 Pages |
Abstract
Autism spectrum disorder (ASD) is a genetically heterogeneous neurodevelopmental disorder characterized by impairments in social interaction and communication, and by restricted and repetitive behaviors. The genetic architecture of ASD has been elucidated, including chromosomal rearrangements, de novo or inherited rare variants, and copy number variants. However, the genetic mechanism of Chinese families with ASD children is explored rarely. To identify genetic pathogenesis, we performed massively parallel sequencing on 13 Chinese ASD trio families, and found two de novo variations. The novel de novo splice alteration c.664â¯+â¯2Tâ¯>â¯G in the DEAF1 gene and the novel de novo missense mutation c.95 Câ¯>â¯T in the AADAT gene associated with ASD may be important clues for exploring the etiology of this disorder.
Keywords
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Shi-Jun Li, Shan-shan Yu, Hong-yu Luo, Xin Li, Bin Rao, Yi Wang, Zhen-zhen Li, Gang Liu, Li-Ping Zou, Ji-Shui Zhang, Chen Feng, Jing Liu, Jian-Wei Liu, Nan Hu, Xiao-Qiao Chen, Sheng-Yuan Yu, Ke Li, Mian-Wang He, Lin Ma,