Novel biallelic CFAP43 mutations induce MMAF with mitochondrial abnormalities and successful ICSI outcomes.

Abstract excerpt

Multiple morphological abnormalities of sperm flagellum (MMAF) is a rare cause of primary infertility. Genetic variants in cilia- and flagella-associated protein 43 ( CFAP43 ) are associated with asthenoteratospermia and MMAF; however, the detailed pathogenic mechanisms are still to be completely elucidated. Here, we identified novel compound heterozygous mutations in CFAP43 , c.1859_1860+8delinsGT, and c.3071A>G...

Topics

• Adult
• Female
• Humans
• Male
• Pregnancy
• Exome Sequencing
• Infertility, Male
• Mitochondria
• Mutation
• Pedigree
• Sperm Injections, Intracytoplasmic