Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Bi‐allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest

14 Mar 2022

Abstract excerpt

The genetic causes of idiopathic premature ovarian insufficiency (POI) and nonobstructive azoospermia (NOA) remain unclear. We performed whole-exome sequencing (WES) in members of a consanguineous family with two POI and two NOA patients to screen for potential pathogenic variants for familial POI and NOA. And a homozygous variant in SPATA22 (c.400C>T:p.R134X) was identified. Histological analysis and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Reproductive Biology and Fertility
Share to Sperm and Testicular Function

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35285020
DOI: 10.1111/cge.14129

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bi‐allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrestPMID 35285020Read ↗

Diverse Monogenic Subforms of Human Spermatogenic FailureSemantic proximity Read ↗

Diverse monogenic subforms of human spermatogenic failureSemantic proximity Read ↗

Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermiaSemantic proximity Read ↗

Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermiaSemantic proximity Read ↗

Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB.Semantic proximity Read ↗

Deciphering the Molecular Characteristics of Human Idiopathic Nonobstructive Azoospermia from the Perspective of Germ CellsSemantic proximity Read ↗

A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes.Semantic proximity Read ↗

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.Semantic proximity Read ↗

Pathogenic variants screening in five non-obstructive azoospermia-associated genes.Semantic proximity Read ↗

Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia.Semantic proximity Read ↗

Genetics of Azoospermia.Semantic proximity Read ↗

Next generation sequencing based exploration of potential candidate variants and microRNAs in patients with idiopathic Hypospermatogenesis sub-type of Non-Obstructive AzoozpermiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.