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A whole-exome sequencing study of polymorphic teratozoospermia in multiplex consanguineous families

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Year: 2018
COI code: CIGS15_108
Paper Language: English

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Authors A whole-exome sequencing study of polymorphic teratozoospermia in multiplex consanguineous families

  Arvand Akbari - Department of Biology, Faculty of Science, Fars Science and Research Branch, Islamic Azad University, Marvdasht, Iran.Department of Biology, Faculty of Science, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran
Paola Carrera - IRCCS San Raffaele Scientific Institute, Division of Genetics and Cell Biology, Unit of Genomics for Human Disease Diagnosis, Milan, Italy . Laboratory of Clinical Molecular Biology, Ospedale San Raffaele, Milan, Italy
  Navid Almadani - Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
  Anahita Mohseni Meybodi - Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
  Hamid Gourabi - Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
  Zahra Anvar - Infertility Research Center, Department of Obstetrics and Gynecology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

Abstract:

Almost half of the male infertility cases remain idiopathic indicating that despite careful physical and molecular examinations, no definitive cause can be identified. Due to its heterogenous nature, examination of various genes used to be an obstacle but with the advent of next-generation sequencing technology it is now a feasible option. We have identified a large family with a host of consanguineous marriages in which seven people have been diagnosed with polymorphic teratozoospermia whom share relatively similar phenotypes of sperm cells. Our objective is to determine a novel pathogenic variant by performing a family-based exome sequencing study.MethodsWhole-exome sequencing (WES) was performed on six people including four affected and two unaffected who are parents to affected. Sequencing run was performed on Illumina nextseq 500 platform. Resulting FASTQ files were checked for quality via FASTQC software. Burrows-Wheeler Aligner (BWA) was used to map the files against the hg19 reference genome provided by the UCSC Genome Browser. Output files were validated and sorted using the Picard tools package. Next steps of the analyses were performed in accordance with GATK best practices. Annotation of finalized VCF files was done via ANNOVAR.Results Candidate variants that co-segregate with the disease phenotype were double-checked by Sanger Sequencing and will be published very soon.Conclusion Since infertility involves various proteins working in concordance with each other, we hope our data can provide a new insight into its pathogenesis

Keywords:

Male infertility, teratozoospermia, Whole Exome Sequencing, family-based study, Next-generation Sequencing

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COI code: CIGS15_108

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Akbari, Arvand; Paola Carrera; Navid Almadani; Anahita Mohseni Meybodi; Hamid Gourabi & Zahra Anvar, 2018, A whole-exome sequencing study of polymorphic teratozoospermia in multiplex consanguineous families, The Third International and 15th National Genetics Congress, تهران, انجمن علمي ژنتيك ايران, https://www.civilica.com/Paper-CIGS15-CIGS15_108.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Akbari, Arvand; Paola Carrera; Navid Almadani; Anahita Mohseni Meybodi; Hamid Gourabi & Zahra Anvar, 2018)
Second and more: (Akbari; Carrera; Almadani; Mohseni Meybodi; Gourabi & Anvar, 2018)
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Type: Azad University
Paper No.: 4811
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