Article
Two frequent loss-of-function mutations in Aurora Kinase C gene in Algerian infertile men with macrozoospermia.
Andrologia - 1 Dec 2020
Hamza Loubna, Gaitch Natacha, Sallem Amira, Boucekkine Nadjia, Girodon Emmanuelle, Oumeziane Amina, Attal Nabila, Wolf Jean Philippe, Bienvenu Thierry
Abstract excerpt
Macrozoospermia is associated with severe male infertility. To date, the only gene implicated in this phenotype is the Aurora Kinase C gene. We report in this work the genetic screening of AURKC mutations in 34 patients with macrozoospermia among 3,536 Algerian infertile men. Nineteen patients (56%) were homozygotes for the c.144delC mutation, eight (23.52%) homozygotes for the c.744C>G (p.Y248*) mutation and two...
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