Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/104689
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Type: Journal article
Title: Biallelic SUN5 mutations cause autosomal-recessive acephalic spermatozoa syndrome
Author: Zhu, F.
Wang, F.
Yang, X.
Zhang, J.
Wu, H.
Zhang, Z.
Zhang, Z.
He, X.
Zhou, P.
Wei, Z.
Gecz, J.
Cao, Y.
Citation: American Journal of Human Genetics, 2016; 99(4):942-949
Publisher: Elsevier
Issue Date: 2016
ISSN: 0002-9297
1537-6605
Statement of
Responsibility: 
Fuxi Zhu, Fengsong Wang, Xiaoyu Yang, Jingjing Zhang, Huan Wu, Zhou Zhang, Zhiguo Zhang, Xiaojin He, Ping Zhou, Zhaolian Wei, Jozef Gecz, and Yunxia Cao
Abstract: Acephalic spermatozoa syndrome is a rare and severe form of teratozoospermia characterized by a predominance of headless spermatozoa in the ejaculate. Family clustering and consanguinity suggest a genetic origin; however, causative mutations have yet to be identified. We performed whole-exome sequencing in two unrelated infertile men and subsequent variant filtering identified one homozygous (c.824C>T [p.Thr275Met]) and one compound heterozygous (c.1006C>T [p.Arg356Cys] and c.485T>A [p.Met162Lys]) SUN5 (also named TSARG4) variants. Sanger sequencing of SUN5 in 15 additional unrelated infertile men revealed four compound heterozygous (c.381delA [p.Val128Serfs∗7] and c.824C>T [p.Thr275Met]; c.381delA [p.Val128Serfs∗7] and c.781G>A [p.Val261Met]; c.216G>A [p.Trp72∗] and c.1043A>T [p.Asn348Ile]; c.425+1G>A/c.1043A>T [p.Asn348Ile]) and two homozygous (c.851C>G [p.Ser284∗]; c.350G>A [p.Gly114Arg]) variants in six individuals. These 10 SUN5 variants were found in 8 of 17 unrelated men, explaining the genetic defect in 47.06% of the affected individuals in our cohort. These variants were absent in 100 fertile population-matched control individuals. SUN5 variants lead to absent, significantly reduced, or truncated SUN5, and certain variants altered SUN5 distribution in the head-tail junction of the sperm. In summary, these results demonstrate that biallelic SUN5 mutations cause male infertility due to autosomal-recessive acephalic spermatozoa syndrome.
Keywords: Spermatozoa; Humans; Infertility, Male; Syndrome; Proteins; Case-Control Studies; Pedigree; Heterozygote; Homozygote; Genes, Recessive; Mutation; Alleles; Computer Simulation; Female; Male; Exome
Description: Corrected by: Erratum: Biallelic SUN5 mutations cause autosomal-recessive acephalic spermatozoa syndrome, in Vol. 99, issue 6, 1405. In the originally published version of this paper, c.1006C>T and c.350G>A in the abstract should have read c.1066C>T and c.340G>A. These errors have now been corrected in the article online. The authors apologize for the error and any inconvenience that might have resulted.
Rights: © 2016 American Society of Human Genetics.
RMID: 0030057440
DOI: 10.1016/j.ajhg.2016.08.004
Appears in Collections:Medicine publications

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