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Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

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 sequen... Full description

Journal Title: The American Journal of Human Genetics 06 October 2016, Vol.99(4), pp.942-949
Main Author: Zhu, Fuxi
Other Authors: Wang, Fengsong , Yang, Xiaoyu , Zhang, Jingjing , Wu, Huan , Zhang, Zhou , Zhang, Zhiguo , He, Xiaojin , Zhou, Ping , Wei, Zhaolian , Gecz, Jozef , Cao, Yunxia
Format: Electronic Article Electronic Article
Language: English
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ID: ISSN: 0002-9297 ; E-ISSN: 1537-6605 ; DOI: 10.1016/j.ajhg.2016.08.004
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recordid: elsevier_sdoi_10_1016_j_ajhg_2016_08_004
title: Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome
format: Article
creator:
  • Zhu, Fuxi
  • Wang, Fengsong
  • Yang, Xiaoyu
  • Zhang, Jingjing
  • Wu, Huan
  • Zhang, Zhou
  • Zhang, Zhiguo
  • He, Xiaojin
  • Zhou, Ping
  • Wei, Zhaolian
  • Gecz, Jozef
  • Cao, Yunxia
subjects:
  • Biology
ispartof: The American Journal of Human Genetics, 06 October 2016, Vol.99(4), pp.942-949
description: 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.824CT [p.Thr275Met]) and one compound heterozygous (c.1066CT [p.Arg356Cys] and c.485TA [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.824CT [p.Thr275Met]; c.381delA [p.Val128Serfs∗7] and c.781GA [p.Val261Met]; c.216GA [p.Trp72∗] and c.1043AT [p.Asn348Ile]; c.425+1GA/c.1043AT [p.Asn348Ile]) and two homozygous (c.851CG [p.Ser284∗]; c.340GA [p.Gly114Arg]) variants in six individuals. These 10 SUN5 variants were...
language: eng
source:
identifier: ISSN: 0002-9297 ; E-ISSN: 1537-6605 ; DOI: 10.1016/j.ajhg.2016.08.004
fulltext: fulltext
issn:
  • 0002-9297
  • 00029297
  • 1537-6605
  • 15376605
url: Link


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titleBiallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome
creatorZhu, Fuxi ; Wang, Fengsong ; Yang, Xiaoyu ; Zhang, Jingjing ; Wu, Huan ; Zhang, Zhou ; Zhang, Zhiguo ; He, Xiaojin ; Zhou, Ping ; Wei, Zhaolian ; Gecz, Jozef ; Cao, Yunxia
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descriptionAcephalic 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.824CT [p.Thr275Met]) and one compound heterozygous (c.1066CT [p.Arg356Cys] and c.485TA [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.824CT [p.Thr275Met]; c.381delA [p.Val128Serfs∗7] and c.781GA [p.Val261Met]; c.216GA [p.Trp72∗] and c.1043AT [p.Asn348Ile]; c.425+1GA/c.1043AT [p.Asn348Ile]) and two homozygous (c.851CG [p.Ser284∗]; c.340GA [p.Gly114Arg]) variants in six individuals. These 10 SUN5 variants were...
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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.1066C>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.340G>A [p.Gly114Arg]) variants in six individuals. These 10 SUN5 variants were...

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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.1066C>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.340G>A [p.Gly114Arg]) variants in six individuals. These 10 SUN5 variants were...

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