biostudies-literatureUnknown14Aprea IPrimary 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 PCD-associated genes encoding axonemal components involved in the regulation of ciliary and flagellar beating are also reported to cause infertility due to multiple morphological abnormalities of the sperm flagella (MMAF). Here, we performed genetic testing by next generation sequencing techniques, PCD diagnostics including immunofluorescence-, transmission electron-, and high-speed video microscopy on sperm flagella and andrological work up including semen analyses. We identified ten infertile Frontiers in genetics1117821https://www.ebi.ac.uk/biostudies/studies/S-EPMC9981940biostudies-literaturePathogenic gene variants in <i>CCDC39</i>, <i>CCDC40</i>, <i>RSPH1</i>, <i>RSPH9</i>, <i>HYDIN,</i> and <i>SPEF2</i> cause defects of sperm flagella composition and male infertility.PMC9981940Loges NTAprea IWilken AOmran HBrenker CRaidt JDougherty GWOlbrich HKliesch STuttelmann FStrunker TKrallmann CBracht DNothe-Menchen TfalsePathogenic gene variants in <i>CCDC39</i>, <i>CCDC40</i>, <i>RSPH1</i>, <i>RSPH9</i>, <i>HYDIN,</i> and <i>SPEF2</i> 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 PCD-associated genes encoding axonemal components involved in the regulation of ciliary and flagellar beating are also reported to cause infertility due to multiple morphological abnormalities of the sperm flagella (MMAF). Here, we performed genetic testing by next generation sequencing techniques, PCD diagnostics including immunofluorescence-, transmission electron-, and high-speed video microscopy on sperm flagella and andrological work up including semen analyses. We identified ten infertile 2023-01-01T00:00:00Z20232026-07-15T01:33:45.165Z2024-11-08T21:10:37.335ZS-EPMC99819403687393110.3389/fgene.2023.1117821