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Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF)

Yan-Wei Sha1, Xiong Wang2,3, Xiaohui Xu4

  • 11 Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian, China.

Reproductive Sciences (Thousand Oaks, Calif.)
|December 27, 2017
PubMed

Insights

Genetic mutations in CFAP44 and CFAP43 cause multiple morphological abnormalities of the sperm flagella (MMAF), a rare infertility disease. This study identifies new genetic causes for MMAF, aiding future genetic counseling.

Area of Science:

  • Genetics
  • Reproductive Biology
  • Cell Biology

Background:

  • Multiple morphological abnormalities of the sperm flagella (MMAF) is a rare genetic disorder causing primary infertility.
  • The genetic underpinnings of approximately 50% of MMAF cases remain unidentified.

Purpose of the Study:

  • To investigate the genetic basis of MMAF by analyzing mutations in CFAP44 and CFAP43.
  • To identify novel genetic loci associated with MMAF for improved genetic counseling.

Main Methods:

  • Whole exome sequencing was performed on 27 patients diagnosed with MMAF.
  • Real-time quantitative polymerase chain reaction and immunofluorescence assays were used to assess gene and protein expression levels.

Main Results:

  • Mutations in CFAP44 were identified in 5 patients, including homozygous and compound heterozygous cases.
  • A splice-site deletion mutation in CFAP43 was found in one patient.
  • Reduced CFAP44 and CFAP43 expression was observed in affected patients.

Conclusions:

  • Biallelic mutations in CFAP44 and CFAP43 are demonstrated to cause MMAF.
  • These findings offer new insights into the genetic etiology of MMAF and potential targets for genetic counseling.
Keywords:
CFAP43CFAP44MMAFconsanguineous familydysplasia of the fibrous sheathmultiple morphological abnormalities of the sperm flagellawhole exome sequencing

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