Whole-exome sequencing study of hypospadias.
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ABSTRACT:
SUBMITTER: Chen Z
PROVIDER: S-EPMC10165268 | biostudies-literature | 2023 May
REPOSITORIES: biostudies-literature
Publications
Whole-exome sequencing study of hypospadias.
Chen Zhongzhong Z Lei Yunping Y Finnell Richard H RH Ding Yu Y Su Zhixi Z Wang Yaping Y Xie Hua H Chen Fang F
iScience 20230412 5
Hypospadias results from the impaired urethral development, which is influenced by androgens, but its genetic etiology is still unknown. Through whole exome sequencing analysis, we identified <i>NR5A1</i>, <i>SRD5A2,</i> and <i>AR</i> as mutational hotspots in the etiology of severe hypospadias, as these genes are related to androgen signaling. Additionally, rare damaging variants in cilia-related outer dynein arm heavy chain (<i>ODNAH</i>) genes (<i>DNAH5</i>, <i>DNAH8</i>, <i>DNAH9</i>, <i>DNA ...[more]
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