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Article

Novel exon mutation in SYCE1 gene is associated with non-obstructive azoospermia.

Journal of cellular and molecular medicine - 1 Feb 2022

Feng Ke, Ge Hengtao, Chen Huanhuan, Cui Chenchen, Zhang Shan, Zhang Cuilian, Meng Li, Guo Haibin, Zhang Lei

Abstract excerpt

Non-obstructive azoospermia (NOA) is a common cause of male infertility, and genetic problems, such as chromosomal abnormalities and gene mutations, are important causes of NOA. Our centre received a case of NOA, in which no mature sperm was found during microdissection testicular sperm extraction. A postoperative pathological examination revealed that testicular spermatogenesis was blocked. Target region capture...

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Identifiers

PMID: 35023261
DOI: 10.1111/jcmm.17180
PMCID: PMC8831938

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Novel exon mutation in SYCE1 gene is associated with non-obstructive azoospermia.PMID 35023261Read ↗

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.Semantic proximity Read ↗

Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia.Semantic proximity Read ↗

The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.Semantic proximity Read ↗

A homozygous frameshift variant in SYCP2 caused meiotic arrest and non-obstructive azoospermia.Semantic proximity Read ↗

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

A rare frameshift mutation inSYCP1is associated with human male infertilitySemantic proximity Read ↗

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.Semantic proximity Read ↗

Familial primary ovarian insufficiency associated with an SYCE1 point mutation: defective meiosis elucidated in humanized mice.Semantic proximity Read ↗

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

Mouse modeling of familial human SYCE1 c.197-2A>G splice site mutation leads to meiotic recombination failure and non-obstructive azoospermia.Semantic proximity Read ↗

Variations of C14ORF39 and SYCE1 Identified in Idiopathic Premature Ovarian Insufficiency and Nonobstructive Azoospermia.Semantic proximity Read ↗

Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectivesSemantic proximity Read ↗

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