Genetic analysis of a child with XYY syndrome in conjunct with 3-methylglutaenedioic aciduria type I

VernacularTitle:一例XYY综合征合并3-甲基戊烯二酸尿症I型患儿的遗传学分析
Author: Xinli ZHANG ¹ ; Guosong SHEN ; Liming PAN ; Xueping SHEN ; Yaqin ZHANG
Author Information

1. 湖州市妇幼保健院，浙江　313000
Keywords: XYY syndrome; 3-methylglutaenedioic aciduria type I; AUH gene
From: Chinese Journal of Medical Genetics 2022;39(7):763-767
CountryChina
Language:Chinese
Abstract: Objective:To explore the genetic basis for a child with mental retardation.Methods:The child was subjected to chromosomal microarray analysis (CMA) and targeted capture next-generation sequencing for the exons of genes related to genetic and metabolic diseases. Candidate variants were verified by Sanger sequencing of the child and his parents.Results:CMA suggested that the child has a 47, XYY karyotype. Next-generation sequencing revealed that the child has harbored compound heterozygous variants of the AUH gene, including c. 677G>A (p.R226H) and c. 373C>T (p.R125W), which were respectively inherited from his parents. Based on the American college of Medical Genetics and Genomics (ACMG) standards and guidelines, the c. 677G>A (P.r226h) variant was predicted as variant of uncertain significance (PM2+ PP4+ PP3), whilst the c. 373C>T (P.R125W) variant was predicted as likely pathogenic (PM1+ PM2+ PP3+ PP4). Conclusion:The child had XYY syndrome in conjunct with 3-methylglutaenedioic aciduria type I due to biallelic pathogenic variants of the AUH gene.