BRIEF RESEARCH REPORT article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1541946
Molecular Variants of Multiple Genes were Revealed by Whole-Exome Sequencing in PCOS Patients with Diabetes
Provisionally accepted
- Shanxi Provincial People's Hospital, Taiyuan, China
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To screen for possible pathogenic mutations in polycystic ovary syndrome (PCOS) patients with diabetes and preliminarily explore the relationship between genotype and phenotype to offer a research basis for PCOS pathogenesis with diabetes. p. Q58delinsQQQ was detected simultaneously in four patients.Whole exome sequencing can quickly identify candidate genes for genes. Gaining an in-depth understanding of the AR mutations underlying PCOS with diabetes will deepen our understanding of the endocrine factors involved in the disease etiology, and provide potential targets for treatment.
Keywords: Polycystic Ovary Syndrome, diabetes, Whole-exome sequencing, Bioinformatics analysis, AR gene, Insulin Resistance
Received: 22 Jan 2025; Accepted: 25 Apr 2025.
Copyright: © 2025 Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Chenglin Wang, Shanxi Provincial People's Hospital, Taiyuan, China
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