Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder.

ABSTRACT:

Background

Autism spectrum disorder (ASD) is defined as a group of genetically and clinically heterogeneous neurodevelopmental disorders. Interplay between de novo and inherited rare variants has been suspected in the development of ASD.

Methods

Here, we applied 750K oligonucleotide microarray analysis and whole-exome sequencing (WES) to five trios from Taiwanese families with ASD.

Results

The chromosomal microarray analysis revealed three representative known diagnostic copy number variants that contributed to the clinical presentation: the chromosome locations 2q13, 1q21.1q21.2, and 9q33.1. WES detected 22 rare variants in all trios, including four that were newly discovered, one of which is a de novo variant. Sequencing variants of JMJD1C, TCF12, BIRC6, and NHS hav

SUBMITTER: Chang YS 

PROVIDER: S-EPMC6900387 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature