期刊
MOLECULAR AND CELLULAR ENDOCRINOLOGY
卷 444, 期 C, 页码 19-25出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.mce.2017.01.037
关键词
Androgen receptor; CYP17A1; Disorders of sex development; Exome sequencing; SRD5A2
资金
- Asan Institute for Life Sciences, Asan Medical Center, Seoul, Korea [2015-481]
Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3KI, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. (C) 2017 Elsevier B.V. All rights reserved.
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