Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

• Published in: Human reproduction (Oxford) Vol. 33; no. 10; pp. 1973 - 1984
• Main Authors: Martinez, Guillaume, Kherraf, Zine-Eddine, Zouari, Raoudha, Fourati Ben Mustapha, Selima, Saut, Antoine, Pernet-Gallay, Karin, Bertrand, Anne, Bidart, Marie, Hograindleur, Jean Pascal, Amiri-Yekta, Amir, Kharouf, Mahmoud, Karaouzène, Thomas, Thierry-Mieg, Nicolas, Dacheux-Deschamps, Denis, Satre, Véronique, Bonhivers, Mélanie, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F, Coutton, Charles
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.10.2018; Oxford University Press (OUP)
• Subjects: Adult; Case-Control Studies; Humans; Infertility, Male - genetics; Life Sciences; Male; Middle Aged; Mutation; Quantitative Methods; Real-Time Polymerase Chain Reaction; Retrospective Studies; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger; Sperm Tail - pathology; Sperm Tail - ultrastructure; Teratozoospermia - diagnosis; Teratozoospermia - genetics; Whole Exome Sequencing - methods; fibrous sheath; multiple morphological abnormalities of the sperm flagella; flagellum; gene mutation; genetic diagnosis; male infertility; whole-exome sequencing

Abstract STUDY QUESTION Can whole-exome sequencing (WES) of infertile patients identify new genes responsible for multiple morphological abnormalities of the sperm flagella (MMAF)? SUMMARY ANSWER WES analysis of 78 infertile men with a MMAF phenotype permitted the identification of four homozygous m...