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Two frequent loss‐of‐function mutations in Aurora Kinase C gene in Algerian infertile men with macrozoospermia
Author(s) -
Hamza Loubna,
Gaitch Natacha,
Sallem Amira,
Boucekkine Nadjia,
Girodon Emmanuelle,
Oumeziane Amina,
Attal Nabila,
Wolf Jean Philippe,
Bienvenu Thierry
Publication year - 2020
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/and.13868
Subject(s) - mutation , biology , infertility , male infertility , genetics , andrology , exon , phenotype , gene , medicine , pregnancy
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 (5.88%) compound heterozygotes. No AURKC mutation was identified in five patients (14.7%). Interestingly and although it is generally accepted that nearly all positive mutated AURKC patients have close to 100% large‐head spermatozoa, our results showed that 11 patients with AURKC mutations (32.35%) had large‐headed spermatozoa lower than 70% (7 with c.144delC and 4 with p.Y248*), and no mutation was found in 2 patients who had >70% of macrocephalic spermatozoa. Twenty ICSI attempts were performed before genetic screening resulting in 39 embryos but no pregnancy was obtained. The sequencing of AURKC exons 3 and 6 is appropriate as a first‐line genetic exploration in these patients to avoid unsuccessful ICSI attempts. A percentage of large head spermatozoa beyond 25% and a percentage of multiflagellar spermatozoa beyond 10% are predictive of a positive mutation diagnosis.