CFAP251 Deficiency Induces Male Infertility and PCD-like Ciliary Defects by Disrupting TUBB4B and SLC25A4 Recruitment in Humans and Mice - PubMed
6 hours ago
- #Ciliary Defects
- #Male Infertility
- #Genetic Mutation
- CFAP251 deficiency is linked to male infertility, causing Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).
- Knockout mouse models and human patients with CFAP251 mutations show PCD-like symptoms, including respiratory issues such as chronic cough and lung abnormalities.
- The deficiency disrupts interactions with TUBB4B and SLC25A4, impairing spermiogenesis, ciliary function, and potentially mitochondrial energy transport.
- Patients with CFAP251 variants can achieve successful births through Intracytoplasmic Sperm Injection (ICSI), indicating a favorable treatment option.
- The study provides insights for genetic counseling and clinical management of individuals with CFAP251-related infertility and ciliary defects.