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

doi:10.1093/humrep/dey264

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Article

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

Human reproduction (Oxford, England) - 1 Oct 2018

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

Abstract excerpt

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 mutations in the fibrous sheath (FS) interacting protein 2 (FSIP2) gene in four unrelated individuals. WHAT IS KNOWN...

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Identifiers

PMID: 30137358
DOI: 10.1093/humrep/dey264

Genes

FSIP2
CFAP43
CFAP44
DNAH1
AKAP4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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