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Article

Identification of a Homozygous Nonsense Variant in KCTD19 Causing Meiotic Arrest and Non-Obstructive Azoospermia in Humans.

Clinical genetics - 1 Apr 2026

Zhang Yuxiang, Li Peiyong, Wang Jian, Li Peng, Sha Yanwei, Yu Zhe

Abstract excerpt

The genetic etiology of non-obstructive azoospermia (NOA) characterized by maturation arrest (MA) remains incompletely understood. A homozygous nonsense variant (c.119G>A, p.W40X) in KCTD19 was identified in two unrelated probands with NOA. This variant disrupts the evolutionarily conserved BTB domain and leads to the absence of the KCTD19 protein. Histological analysis revealed a complete absence of post-meiotic...

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Identifiers

PMID: 41221840
DOI: 10.1111/cge.70106

Genes

KCTD19

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Identification of a Homozygous Nonsense Variant in KCTD19 Causing Meiotic Arrest and Non-Obstructive Azoospermia in Humans.PMID 41221840Read ↗

Identification of a Homozygous Nonsense Variant in KCTD19 Causing Meiotic Arrest and Non-obstructive Azoospermia in HumansSemantic proximity Read ↗

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