Universität zu Köln

Sha, Yanwei, Liu, Wensheng, Li, Lin, Serafimovski, Mario, Isachenko, Vladimir, Li, Youzhu, Chen, Jing, Zhao, Bangrong, Wang, Yifeng and Wei, Xiaoli (2021). Pathogenic Variants in ACTRT1 Cause Acephalic Spermatozoa Syndrome. Front. Cell. Dev. Biol., 9. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-634X

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Abstract

Acephalic spermatozoa syndrome is a rare type of teratozoospermia, but its pathogenesis is largely unknown. Here, we performed whole-exome sequencing for 34 patients with acephalic spermatozoa syndrome and identified pathogenic variants in the X-linked gene, ACTRT1, in two patients. Sanger sequencing confirmed the pathogenic variants of ACTRT1 in the patients. Both pathogenic variants of ACTRT1 were highly conserved, and in silico analysis revealed that they were deleterious and rare. Actrt1-knockout mice exhibited a similar acephalic spermatozoa phenotype. Therefore, we speculated that mutations in ACTRT1 account for acephalic spermatozoa syndrome. Moreover, the patients in this study conceived their children through artificial insemination. This study provides further insights for clinicians and researchers regarding the genetic etiology and therapeutic strategies for acephalic spermatozoa patients with pathogenic variants in ACTRT1.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Sha, Yanwei UNSPECIFIED UNSPECIFIED UNSPECIFIED Liu, Wensheng UNSPECIFIED UNSPECIFIED UNSPECIFIED Li, Lin UNSPECIFIED UNSPECIFIED UNSPECIFIED Serafimovski, Mario UNSPECIFIED UNSPECIFIED UNSPECIFIED Isachenko, Vladimir UNSPECIFIED UNSPECIFIED UNSPECIFIED Li, Youzhu UNSPECIFIED UNSPECIFIED UNSPECIFIED Chen, Jing UNSPECIFIED UNSPECIFIED UNSPECIFIED Zhao, Bangrong UNSPECIFIED UNSPECIFIED UNSPECIFIED Wang, Yifeng UNSPECIFIED UNSPECIFIED UNSPECIFIED Wei, Xiaoli UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-587819
DOI:	10.3389/fcell.2021.676246
Journal or Publication Title:	Front. Cell. Dev. Biol.
Volume:	9
Date:	2021
Publisher:	FRONTIERS MEDIA SA
Place of Publication:	LAUSANNE
ISSN:	2296-634X
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language SPERM DEFECT; MUTATIONS; HEAD; SIFT Multiple languages Cell Biology; Developmental Biology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/58781