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Abstract <p>Mutations in a number of genes are now known to cause susceptibility to male infertility. In Pakistan, very little is known about the genetic spectrum of male infertility. So, the main aim of the current genetic study was to investigate the single Saraiki origin consanguineous Pakistani family segregating infertility. Methodology for genetic analysis includes whole-exome sequencing (WES) and Sanger sequencing. Semen analysis was also done; however, <i>in silico</i> functional analysis was done using I-TASSER (for 3D structure modeling and Cluspro tool (for protein−protein interaction). Affected members were found to have severe oligozoospermia. Additionally, Analysis of exome data identified a novel homozygous frameshift mutation c.1077_1078insA:(p.Gly360Argfs*8) in the <i>CFAP97</i> gene segregating in the family with the disease phenotype. Based on these findings, we suggest developing a molecular diagnostic test that may be used for premarital and prenatal screening of families at risk of infertility.</p>

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Whole Exome Sequencing Identified a Novel Homozygous Frameshift Mutation c.1077_1078insA (p.Gly360Argfs*8) in CFAP97 Gene Causing Male Infertility

  • 期刊论文

  • 发表日期：

    2026年2月2日

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  • Muhammad Ishaq Shah,
  • Jabbar KHAN,
  • Sami Siraj,
  • Maria Shafiq,
  • Yaser Uddin Hoti

摘要

Abstract

Mutations in a number of genes are now known to cause susceptibility to male infertility. In Pakistan, very little is known about the genetic spectrum of male infertility. So, the main aim of the current genetic study was to investigate the single Saraiki origin consanguineous Pakistani family segregating infertility. Methodology for genetic analysis includes whole-exome sequencing (WES) and Sanger sequencing. Semen analysis was also done; however, in silico functional analysis was done using I-TASSER (for 3D structure modeling and Cluspro tool (for protein−protein interaction). Affected members were found to have severe oligozoospermia. Additionally, Analysis of exome data identified a novel homozygous frameshift mutation c.1077_1078insA:(p.Gly360Argfs*8) in the CFAP97 gene segregating in the family with the disease phenotype. Based on these findings, we suggest developing a molecular diagnostic test that may be used for premarital and prenatal screening of families at risk of infertility.