Hui Jing, Zixuan Wang, Yu Mao, Yunman Tang, Yuhan Chen, Li Cao, Yuwei Chen-Zhang, Jiyun Yang
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引用次数: 0
Abstract
This study investigated genetic causes of 46, XY DSD in 134 Chinese patients via whole-exome sequencing (WES). Clinical data analysis identified 86 rare variants (14 novel, 72 recurrent) across 46, XY DSD-related genes. Following ACMG guidelines, 71 variants were classified as pathogenic/likely pathogenic (P/LP). Affected genes were linked to androgen production/function (63 variants), testicular development (19), and syndromic forms (4). SRD5A2, AR, and NR5A1 emerged as the most frequent causative genes, accounting for ~90% of cases. Novel variants in 11 genes expanded the genetic spectrum, offering insights into underlying mechanisms and improving diagnostic precision. These findings enhance understanding of 46, XY DSD pathogenesis and underscore WES's utility in resolving diagnostic challenges for improved clinical management.
期刊介绍：
Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.
Topics of particular interest are:
• Linking genetic variations to disease
• Genome rearrangements and disease
• Epigenetics and disease
• The translation of genotype to phenotype
• Genetics of complex disease
• Management/intervention of genetic diseases
• Novel therapies for genetic diseases
• Developmental biology, as it relates to clinical genetics
• Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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