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Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility

Kuokuo Li1,2,3, Guanxiong Wang1,2, Mingrong Lv1,2,3

  • 1Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.

Journal of Assisted Reproduction and Genetics
|October 17, 2021
PubMed
Abstract

Insights

Researchers identified novel DNAH10 gene variants causing multiple morphological abnormalities in sperm flagella (MMAF), a severe form of male infertility. This discovery aids in diagnosing and counseling patients with this condition.

Area of Science:

  • Genetics
  • Reproductive Biology
  • Cell Biology

Background:

  • Multiple morphological abnormalities in the sperm flagella (MMAF) is a severe cause of asthenoteratozoospermia, characterized by reduced or absent sperm motility.
  • While numerous candidate genes for MMAF have been identified, the genetic basis remains unknown for a significant number of patients.

Purpose of the Study:

  • To identify novel genetic causes of MMAF by investigating patients with this condition.
  • To explore the role of DNAH10 variants in the pathogenesis of MMAF.

Main Methods:

  • Whole-exome sequencing was performed on patients diagnosed with MMAF to detect pathogenic variants.
  • Spermatozoa phenotypes were analyzed using hematoxylin and eosin staining, scanning electron microscopy, and transmission electron microscopy.
  • Immunofluorescence assays were utilized to assess the expression and localization of DNAH10 and other relevant sperm structure proteins.

Main Results:

  • Two patients with MMAF were found to carry pathogenic DNAH10 variants: one homozygous frameshift variant and one compound heterozygous variant.
  • These identified DNAH10 variants were rare or absent in the general population.
  • Electron microscopy revealed significant disruption of sperm flagella structure, including a deficiency in inner dynein arms (IDA), and immunofluorescence assays showed reduced IDA-related proteins.

Conclusions:

  • Putative novel pathogenic variants in the DNAH10 gene associated with MMAF were identified.
  • These findings may improve the genetic diagnosis and clinical genetic counseling for male infertility related to MMAF.
Keywords:
AsthenoteratozoospermiaDNAH10FlagellumMale infertility

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