Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport

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Updated: Oct 19, 2025

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
11:13

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I

Published on: April 10, 2018

9.1K

Cong Ma1,2,3, Huan Wu1,2,3, Damin Zhu2,3

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

Clinical Genetics
|September 27, 2021
PubMed

Insights

Genetic mutations in MCIDAS and CCNO cause reduced generation of multiple motile cilia (RGMC), leading to infertility. Successful in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) offer reproductive options for affected individuals.

Area of Science:

  • Reproductive Biology
  • Genetics
  • Cell Biology

Background:

  • Reduced generation of multiple motile cilia (RGMC) and primary ciliary dyskinesia (PCD) significantly reduce multiciliated cells (MCCs) in reproductive tract epithelia, causing infertility.
  • MCIDAS and CCNO are crucial genes regulating basal body (BB) biogenesis and multiciliogenesis in the reproductive tract.

Purpose of the Study:

  • To identify causative genes in 10 unrelated infertile patients with PCD using whole-exome sequencing.
  • To investigate the roles of MCIDAS and CCNO in multiciliogenesis within the reproductive tract epithelium.

Main Methods:

  • Whole-exome sequencing was employed to identify genetic mutations in infertile patients.
  • Histological analyses (Haematoxylin-eosin, scanning electron microscopy, transmission electron microscopy) and immunofluorescence staining were used to assess MCCs and BBs.
  • In vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) outcomes were evaluated.

Main Results:

  • Homozygous frameshift mutations in MCIDAS and CCNO were identified in two unrelated consanguineous families.
  • Mutated EDs/oviducts exhibited abnormal MCCs and significantly reduced BBs.
  • MCIDAS acts upstream of CCNO in multiciliogenesis, confirmed by the absence of their signals in affected tissues.

Conclusions:

  • Mutations in MCIDAS and CCNO are causative of infertility due to RGMC.
  • IVF/ICSI interventions are effective treatments for infertility associated with RGMC in both MCIDAS- and CCNO-mutated patients.
Keywords:
CCNOMCIDASefferent ductsmulticiliated cellsoviducts

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