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Article

Variations of C14ORF39 and SYCE1 Identified in Idiopathic Premature Ovarian Insufficiency and Nonobstructive Azoospermia.

The Journal of clinical endocrinology and metabolism - 17 Feb 2022

Hou Dong, Yao Chencheng, Xu Bingying, Luo Wei, Ke Hanni, Li Zheng, Qin Yingying, Guo Ting

Abstract excerpt

CONTEXT: Premature ovarian insufficiency (POI) and nonobstructive azoospermia (NOA) are the most severe diseases causing irreversible infertility in females and males, respectively. The contribution of synaptonemal complex (SC) gene variations in the pathogenesis of sporadic patients with POI and NOA has not been systematically illustrated. OBJECTIVE: To investigate the role of SC genes in the pathogenesis of...

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PMID: 34718620
DOI: 10.1210/clinem/dgab777

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Variations of C14ORF39 and SYCE1 Identified in Idiopathic Premature Ovarian Insufficiency and Nonobstructive Azoospermia.PMID 34718620Read ↗

In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia.Semantic proximity Read ↗

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Homozygous variants in SYCP2L cause premature ovarian insufficiency.Semantic proximity Read ↗

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

Familial primary ovarian insufficiency associated with a <i>SYCE1</i> point mutation: Defective meiosis elucidated in humanized miceSemantic proximity Read ↗

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

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