Literature DB >> 24690399

Chromosome microarray analysis: a case report of infertile brothers with CATSPER gene deletion.

Deepika Jaiswal1, Vertika Singh1, U S Dwivedi2, Sameer Trivedi2, Kiran Singh3.   

Abstract

We present the case of two brothers who were referred to a male infertility clinic for infertility workup. Conventional chromosome analysis and Y chromosome microdeletions did not reveal any genetic alterations. We utilized the chromosome microarray analysis (CMA) to identify novel and common variations associated with this severely impaired spermatogenesis cases. CMA specific results showed a common deletion in the 15q15.3 region that harbors genes like CATSPER2, STRC and PPIP5K1 in both cases (M18 and M19). In addition we identified small duplication in X and 11 chromosomes of M19. This is the first familial case report from India on occurrence of CATSPER gene deletion in human male infertility.
Copyright © 2014 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  CATSPER; Chromosome; Infertility; Sperm

Mesh：

Substances：

Year:  2014        PMID： 24690399     DOI： 10.1016/j.gene.2014.03.055

Source DB:  PubMed          Journal:  Gene        ISSN： 0378-1119            Impact factor:   3.688


  9 in total

1.  CatSper: A Unique Calcium Channel of the Sperm Flagellum.

Authors:  Polina V Lishko; Nadja Mannowetz
Journal:  Curr Opin Physiol       Date:  2018-02-22

2.  Genomic testing for copy number and single nucleotide variants in spermatogenic failure.

Authors:  J Hardy; N Pollock; T Gingrich; P Sweet; A Ramesh; J Kuong; A Basar; H Jiang; K Hwang; J Vukina; T Jaffe; M Olszewska; M Kurpisz; A N Yatsenko
Journal:  J Assist Reprod Genet       Date:  2022-07-18       Impact factor: 3.357

3.  Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.

Authors:  Hideaki Moteki; Hela Azaiez; Christina M Sloan-Heggen; Kevin Booth; Shin-Ya Nishio; Keiko Wakui; Tomomi Yamaguchi; Diana L Kolbe; Yoh-Ichiro Iwasa; A Eliot Shearer; Yoshimitsu Fukushima; Richard J H Smith; Shin-Ichi Usami
Journal:  Ann Otol Rhinol Laryngol       Date:  2016-07-28       Impact factor: 1.547

4.  Bisphenol A Diglycidyl Ether (BADGE) and Bisphenol Analogs, but Not Bisphenol A (BPA), Activate the CatSper Ca2+ Channel in Human Sperm.

Authors:  Anders Rehfeld; A M Andersson; N E Skakkebæk
Journal:  Front Endocrinol (Lausanne)       Date:  2020-05-19       Impact factor: 5.555

5.  Frequency and clinical features of hearing loss caused by STRC deletions.

Authors:  Yoh Yokota; Hideaki Moteki; Shin-Ya Nishio; Tomomi Yamaguchi; Keiko Wakui; Yumiko Kobayashi; Kenji Ohyama; Hiromitsu Miyazaki; Rina Matsuoka; Satoko Abe; Kozo Kumakawa; Masahiro Takahashi; Hirofumi Sakaguchi; Natsumi Uehara; Takashi Ishino; Tomoki Kosho; Yoshimitsu Fukushima; Shin-Ichi Usami
Journal:  Sci Rep       Date:  2019-03-13       Impact factor: 4.379

6.  Non-Robertsonian translocations involving chromosomes 13, 14, or 15 in male infertility: 28 cases and a review of the literature.

Authors:  Hongguo Zhang; Ruixue Wang; Yang Yu; Haibo Zhu; Leilei Li; Xiao Yang; Xiaonan Hu; Ruizhi Liu
Journal:  Medicine (Baltimore)       Date:  2019-03       Impact factor: 1.889

7.  Specific loss of CatSper function is sufficient to compromise fertilizing capacity of human spermatozoa.

Authors:  Hannah L Williams; Steven Mansell; Wardah Alasmari; Sean G Brown; Stuart M Wilson; Keith A Sutton; Melissa R Miller; Polina V Lishko; Christopher L R Barratt; Steven J Publicover; Sarah Martins da Silva
Journal:  Hum Reprod       Date:  2015-10-08       Impact factor: 6.918

8.  Human sperm ion channel (dys)function: implications for fertilization.

Authors:  Sean G Brown; Stephen J Publicover; Christopher L R Barratt; Sarah J Martins da Silva
Journal:  Hum Reprod Update       Date:  2019-11-05       Impact factor: 15.610

Review 9.  The Role of Genetics and Oxidative Stress in the Etiology of Male Infertility-A Unifying Hypothesis?

Authors:  Robert John Aitken; Mark A Baker
Journal:  Front Endocrinol (Lausanne)       Date:  2020-09-30       Impact factor: 5.555
  9 in total

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