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Article

Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans.

Journal of medical genetics - 21 May 2024

Guo Rui, Wu Huan, Zhu Xiaoyu, Wang Guanxiong, Hu Kaiqin, Li Kuokuo, Geng Hao, Xu Chuan, Zu Chenwan, Gao Yang, Tang Dongdong, Cao Yunxia, He Xiaojin

Abstract excerpt

BACKGROUND: The association between the TDRD6 variants and human infertility remains unclear, as only one homozygous missense variant of TDRD6 was found to be associated with oligoasthenoteratozoospermia (OAT). METHODS: Whole-exome sequencing and Sanger sequencing were employed to identify potential pathogenic variants of TDRD6 in infertile men. Histology, immunofluorescence, immunoblotting and ultrastructural...

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Share to Asthenozoospermia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infertility, Male

Share to Oligospermia

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Share to Sperm Injections, Intracytoplasmic

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Source

Identifiers

PMID: 38341271
DOI: 10.1136/jmg-2023-109766

Genes

TDRD6
OAT
DDX4
UPF1

Provenance

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

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