Article
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.
Journal of medical genetics - 1 Oct 2020
Martinez Guillaume, Beurois Julie, Dacheux Denis, Cazin Caroline, Bidart Marie, Kherraf Zine-Eddine, Robinson Derrick R, Satre Véronique, Le Gac Gerald, Ka Chandran, Gourlaouen Isabelle, Fichou Yann, Petre Graciane, Dulioust Emmanuel, Zouari Raoudha, Thierry-Mieg Nicolas, Touré Aminata, Arnoult Christophe, Bonhivers Mélanie, Ray Pierre, Coutton Charles
Abstract excerpt
BACKGROUND: Multiple morphological abnormalities of the flagella (MMAF) consistently lead to male infertility due to a reduced or absent sperm motility defined as asthenozoospermia. Despite numerous genes recently described to be recurrently associated with MMAF, more than half of the cases analysed remain unresolved, suggesting that many yet uncharacterised gene defects account for this phenotype METHODS: Exome...
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