ArticleMolecular genetics & genomic medicine2019
Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next-generation sequencing.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- Identification of gene variants in 30 patients from southeastern China with severe hypospadias by whole-exome sequencing.Asian journal of andrology · 2026Article
- Genetic variants (LhcgrBiology of sex differences · 2025Article
- Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.Biology of sex differences · 2024Article
- A novel MAMLD1 variant in a newborn with hypospadias and elevated 17-hydroxyprogesterone.Hormones (Athens, Greece) · 2024Article
- Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.Frontiers in genetics · 2024Review
- Article
- 46,XY disorders of sex development: the use of NGS for prevalent variants.Human genetics · 2022Article
- Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients.Orphanet journal of rare diseases · 2022Article
- Review
- Oligogenic Origin of Differences of Sex Development in Humans.International journal of molecular sciences · 2020Review
- Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next-generation sequencing.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHypospadias is a common congenital malformation of male external genitalia, which mainly manifests as an abnormal urethral opening on the ventral side of the penis. The etiology and clinical phenotype of hypospadias is highly heterogeneous, and its clinical diagnosis is challenging. Currently, over 70% of patients have an unknown etiology. Here, we performed a targeted analysis of gene mutations in 130 patients with hypospadias of unknown etiology to find the precise genetic cause.
methodsWe developed a targeted next-generation sequencing (NGS) panel, encompassing the exon coding regions of 105 genes involved in external genitalia and urogenital tract development and performed sequencing analysis on 130 children with hypospadias of unknown etiology.
resultsIn total, 25 patients with hypospadias (19.2%) were found to have 20 mutations among the nine genes involved in external genitalia and urogenital tract development, including 16 reported and four novel mutation sites. Twenty-two patients (16.9%) had diagnostic variants. Multiple genetic mutations were identified in three of the 25 patients. Hypospadias combined with micropenis was the most common phenotype (68%) in 25 patients.
conclusionsHigher frequency mutations were identified in SRD5A2 (52%) and AR (24%) in our patient cohort. Middle or posterior hypospadias with micropenis may be significant indicators of genetic variations. Polygenic inheritance may be a rare genetic cause of hypospadias.
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