ArticleScientific reports2018
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 39 citations in OpenAlex.
- Innovative treatment approaches for azoospermia: causes, emerging techniques, and future directions.Molecular biology reports · 2026Review
- Adhesion G protein-coupled receptors.Pharmacological reviews · 2026Review
- X-linked congenital bilateral absence of the vas deferens: a truncating pathogenic variant in ADGRG2: case report, reproductive outcome, and literature review.Journal of assisted reproduction and genetics · 2026Review
- SperMD: the expression atlas of sperm maturation.BMC bioinformatics · 2024Article
- Proteomic approach towards identification of seminal fluid biomarkers from individuals with severe oligozoospermia, cryptozoospermia and non-obstructive azoospermia: a pilot study.Translational andrology and urology · 2023Article
- A novel ADGRG2 truncating variant associated with X-linked obstructive azoospermia in a large Chinese pedigree.Journal of assisted reproduction and genetics · 2023Article
- Congenital Bilateral Absence of the Vas Deferens.Frontiers in genetics · 2022Review
- Genetics of Azoospermia.International journal of molecular sciences · 2021Review
- Genetics of the congenital absence of the vas deferens.Human genetics · 2021Review
- Male Infertility in Humans: An Update on Non-obstructive Azoospermia (NOA) and Obstructive Azoospermia (OA).Advances in experimental medicine and biology · 2021Review
- Article
- Function and therapeutic potential of G protein-coupled receptors in epididymis.British journal of pharmacology · 2020Review
- Commentary on: A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens.Journal of assisted reproduction and genetics · 2020Article
- Seminal Plasma Proteome as an Indicator of Sperm Dysfunction and Low Sperm Motility in Chickens.Molecular & cellular proteomics : MCP · 2020Article
- A rare frameshift variant in trans with the IVS9-5T allele of CFTR in a Chinese pedigree with congenital aplasia of vas deferens.Journal of assisted reproduction and genetics · 2019Article
- Adhesion G protein-coupled receptors: opportunities for drug discovery.Nature reviews. Drug discovery · 2019Article
- Genetic defects in human azoospermia.Basic and clinical andrology · 2019Article
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
Abstract
We performed whole exome sequencing to identify an unknown genetic cause of azoospermia and male infertility in a large Pakistani family. Three infertile males were subjected to semen analysis, hormone testing, testicular histology, ultrasonography, karyotyping, Y-chromosome microdeletion and CFTR testing. The clinical testing suggested a diagnosis of obstructive azoospermia (OA). To identify the cause, we performed whole exome sequencing (WES) for 2 infertile brothers and 2 fertile family members. For segregation analysis and variant confirmation, we performed Sanger sequencing. WES data analysis of the family revealed segregated variants in 3 candidate genes. We considered novel nonsense variant c.2440C > T(p.Arg814*) in X-linked gene ADGRG2 as biologically most plausible. It is predicted to truncate the protein by 204 amino acids (aa) at a key transmembrane domain. Adgrg2-knockout male mice show sperm loss due to obstructive fluid stasis, while ADGRG2 mutations cause OA in the infertile male patients. Our analysis of testicular histology reveals secondary severe reduction of spermatogenesis, consistent with human and knockout mouse phenotypes. The ADGRG2 nonsense mutation is absent in the largest population databases, ExAC and gnomAD. Analysis of the novel nonsense mutation in extended family members confirmed co-segregation of the mutation with OA in all affected males. The likely pathogenic nature of the mutation is supported by its truncation effect on the transmembrane domain and distinctive ultrasound results. The study demonstrates effectiveness of WES in discovering a genetic cause of azoospermia.
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