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Article

Pathogenesis of acephalic spermatozoa syndrome caused by splicing mutation and de novo deletion in TSGA10.

Journal of assisted reproduction and genetics - 1 Oct 2021

Xiang Mingfei, Wang Yu, Xu Weilong, Zheng Na, Zhang Jingjing, Duan Zongliu, Zha Xiaomin, Shi Xuanming, Wang Fengsong, Cao Yunxia, Zhu Fuxi

Abstract excerpt

PURPOSE: To identify the genetic causes for acephalic spermatozoa syndrome. METHODS: Whole-exome sequencing was performed on the proband from a non-consanguineous to identify pathogenic mutations for acephalic spermatozoa syndrome. Quantitative real-time polymerase chain reaction and whole genome sequencing were subjected to detect deletion. The functional effect of the identified splicing mutation was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34409526
DOI: 10.1007/s10815-021-02295-x
PMCID: PMC8581110

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