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Clin Chim Acta. 2018 Apr;479:144-147. doi: 10.1016/j.cca.2018.01.025. Epub 2018 Feb 2.

Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.

Author information

1
Department of Medical Instruments, Chinese PLA General Hospital, Beijing 100853, China. Electronic address: shijunli07@yeah.net.
2
BGI-shenzhen, Shenzhen 518083, China. Electronic address: yushan_mail@sina.cn.
3
BGI-shenzhen, Shenzhen 518083, China.
4
Department of Stomatology, Chinese PLA General Hospital, Beijing 100853, China.
5
Department of Medical Instruments, Chinese PLA General Hospital, Beijing 100853, China.
6
Department of Radiology, Chinese PLA General Hospital, Beijing 100853, China.
7
Department of Pediatrics, Chinese PLA General Hospital, Beijing 100853, China.
8
Department of Neurology, Beijing Children's Hospital of Capital Medical University, Beijing 100045, China.
9
Institute of Geriatric Medicine, Chinese PLA General Hospital, Beijing 100853, China.
10
Department of Rehabilitation Medicine, Chinese PLA General Hospital, Beijing 100853, China.
11
Department of Neurology, Chinese PLA General Hospital, Beijing 100853, China.
12
Department of Neurosurgery, Chinese PLA General Hospital, Beijing 100853, China.
13
Department of Medical Information, Chinese PLA General Hospital, Beijing 100853, China.

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.664 + 2T > G in the DEAF1 gene and the novel de novo missense mutation c.95 C > T in the AADAT gene associated with ASD may be important clues for exploring the etiology of this disorder.

KEYWORDS:

Autism spectrum disorder; Chromosomal variants; De novo mutations; Massively parallel sequencing; Neurodevelopmental disorder

PMID:
29366832
DOI:
10.1016/j.cca.2018.01.025
[Indexed for MEDLINE]

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