Yuan Danfeng, Jiao Jian, Zhang Manxue, Li Sixun, Wang Zhuo, Yang Yanping, Situ Mingjing, Wang Meiwen, Luo Tingting, Huang Yi
Mental Health Center, West China Hospital of Sichuan University, Chengdu, Sichuan 610041, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Mar 10;39(3):297-300. doi: 10.3760/cma.j.cn511374-20210930-00792.
To carry out genetic testing for a patient with 45,X/46,XY mosaicism and autism spectrum disorder (ASD).
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.
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.
Variants of the CACNA1I and MTRR genes, together with the chromosomal mosaicism, may have predisposed to the susceptibility to the ASD in this patient.
对一名患有45,X/46,XY嵌合体和自闭症谱系障碍（ASD）的患者进行基因检测。
采集患者及其父母的外周血样本以提取基因组DNA。随后进行了基于三联体的全外显子组测序和桑格测序。
先证者及其父亲被发现携带CACNA1I基因的杂合c.4781G>A（p.Arg1594Gln）变异。此外，还发现先证者携带MTRR基因的一个新生c.268C>T（p.Arg90Trp）错义变异。根据美国医学遗传学与基因组学学会（ACMG）的指南，CACNA1I基因的c.4781G>A（p.Arg1594Gln）变异被预测为致病（PVS1、PM1、PM2、PP3），而MTRR基因的c.268C>T（p.Arg90Trp）变异被预测为意义不明确。
CACNA1I和MTRR基因的变异，连同染色体嵌合体，可能使该患者易患ASD。
