Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella
Guillaume Martinez, Zine-Eddine Kherraf, Raoudha Zouari, Selima Fourati Ben Mustapha, Antoine Saut, Karin Pernet-Gallay, Anne Bertrand, Marie Bidart, Jean Pascal Hograindleur, Amir Amiri-Yekta, Mahmoud Kharouf, Thomas Karaouzène, Nicolas Thierry-Mieg, Denis Dacheux-Deschamps, Véronique Satre, Mélanie Bonhivers, Aminata Touré, Christophe Arnoult, Pierre F Ray, Charles Coutton, 13.08.2018
MARTINEZ, Guillaume, et al. Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella. Human Reproduction, 2018, 33. Jg., Nr. 10, S. 1973-1984.
Publication: https://doi.org/10.1093/humrep/dey264
Disclaimer
The publication Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella by Guillaume Martinez, Zine-Eddine Kherraf, Raoudha Zouari, Selima Fourati Ben Mustapha, Antoine Saut, Karin Pernet-Gallay, Anne Bertrand, Marie Bidart, Jean Pascal Hograindleur, Amir Amiri-Yekta, Mahmoud Kharouf, Thomas Karaouzène, Nicolas Thierry-Mieg, Denis Dacheux-Deschamps, Véronique Satre, Mélanie Bonhivers, Aminata Touré, Christophe Arnoult, Pierre F Ray, Charles Coutton is not published under an open access license. Therefore, only content curated by the MFGA team can be shown. For abstract, images and tables please follow the link to the original publication.
Curation by the MFGA team Relevant data sets presented in the publication have been identified. If possible, annotations (title, general information, conditions, processed tissue types and processed cell types) have been added based on information from the publication.
Data set 1:
Exome: Whole Exome Sequencing
Species
Species |
---|
Human |
Conditions
Human phenotype ontology | Participants | Comment |
---|---|---|
HP:0012864: Abnormal sperm morphology | 78 | All patients presented with a typical MMAF phenotype defined by asthenozoospermia (total motility <40%) with >5% of at least three flagellar morphological abnormalities (absent, short, coiled, bent and irregular flagella). |
Cell Types
Cell ontology | Maturity | Description | Species | Replicates | Cells per replicate |
---|---|---|---|---|---|
CL_0000019: sperm | Adult | human |