Whole exome sequencing analysis of a patient with 45,X/46,XY mosaicism and autism spectrum disorder.
10.3760/cma.j.cn511374-20210930-00792
- Author:
Danfeng YUAN
1
;
Jian JIAO
;
Manxue ZHANG
;
Sixun LI
;
Zhuo WANG
;
Yanping YANG
;
Mingjing SITU
;
Meiwen WANG
;
Tingting LUO
;
Yi HUANG
Author Information
1. Mental Health Center, West China Hospital of Sichuan University, Chengdu, Sichuan 610041, China. huangyu@scu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Autism Spectrum Disorder/genetics*;
Genomics;
Heterozygote;
Humans;
Mosaicism;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(3):297-300
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out genetic testing for a patient with 45,X/46,XY mosaicism and autism spectrum disorder (ASD).
METHODS:Peripheral blood samples of the patient and his parents were collected for the extraction of genomic DNA. Trio-based whole exome sequencing and Sanger sequencing were carried out thereafter.
RESULTS:The proband and his father were found to harbor a heterozygous c.4781G>A (p.Arg1594Gln) variant of the CACNA1I gene. In addition, the proband was also found to harbor a de novo c.268C>T (p.Arg90Trp) missense variant of the MTRR gene. Based on guidelines of the American College of Medical Genetics and Genomics (ACMG), the c.4781G>A (p.Arg1594Gln) variant of the CACNA1I gene was predicted to be pathogenic (PVS1, PM1, PM2, PP3), while the c.268C>T (p.Arg90Trp) variant of the MTRR gene was predicted to be of uncertain significance.
CONCLUSION:Variants of the CACNA1I and MTRR genes, together with the chromosomal mosaicism, may have predisposed to the susceptibility to the ASD in this patient.
