Tang Bingqiang,Geng Hongquan,Lin Houwei,et al.Exon sequencing of cryptorchidism and other associated urogenital malformations[J].Journal of Clinical Pediatric Surgery,,19():45-49.[doi:10.3969/j.issn.1671-6353.2020.01.009]
Exon sequencing of cryptorchidism and other associated urogenital malformations
- Keywords:
- Cryptorchidism; Urogenital Abnormalities; Exome Sequencing
- CLC:
- R726.9;R691.1
- Abstract:
- Objective To perform exon sequencing in children with cryptorchidism and other associated urogenital malformations for elucidating the molecular etiologies of different clinical phenotypes.Methods Exome sequencing was performed for nineteen samples.Potential candidate variants were confirmed by Sanger sequencing and then validated in their parents.Results Among 6 mutations,there were 3 mutations in AR gene,2 mutations in NR5A1 gene and 1 mutation in ATRX gene.There were 6 each of missense mutations:(c.1600C>A; p.Pro534Thr),(c.2599G>A;p.Val867Met) and (c.528C>A;p.Ser176Arg)in AR gene; frameshift mutation (c.442delG; p.Glu148Serfs*148); missense mutation (c.43G>A; p.Val15Met) in NR5A1 gene; splice site mutation(c.4317+13T>C)in ATRX gene.Conclusion AR,NR5A1 and ATRX variants are probable risk factors for cryptorchidism and other urinary malformations of susceptible candidates.
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Memo
收稿日期:2019-01-14。
基金项目:国家自然科学基金项目（编号：81770702）
通讯作者:耿红全,Email:ghongquan@hotmail.com