Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility

Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting the function of motile cilia in several organ systems. In PCD, male infertility is caused by defective sperm flagella composition or deficient motile cilia function in the efferent ducts of the male reproductive system. Different...

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Bibliographic Details
Main Authors: I. Aprea, A. Wilken, C. Krallmann, T. Nöthe-Menchen, H. Olbrich, N. T. Loges, G. W. Dougherty, D. Bracht, C. Brenker, S. Kliesch, T. Strünker, F. Tüttelmann, J. Raidt, H. Omran
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Genetics
Subjects:
axonemal ruler
RS head
CP-complex
PCD
asthenozoospermia
MMAF
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1117821/full

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