SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia inhomozygotes

• Published in: EMBO molecular medicine Vol. 9; no. 8; pp. 1132 - 1149
• Main Authors: Kherraf, Zine-Eddine, Christou-Kent, Marie, Karaouzene, Thomas, Amiri-Yekta, Amir, Martinez, Guillaume, Vargas, Alexandra S., Lambert, Emeline, Borel, Christelle, Dorphin, Beatrice, Aknin-Seifer, Isabelle, Mitchell, Michael J., Metzler-Guillemain, Catherine, Escoffier, Jessica, Nef, Serge, Grepillat, Mariane, Thierry-Mieg, Nicolas, Satre, Veronique, Bailly, Marc, Boitrelle, Florence, Pernet-Gallay, Karin, Hennebicq, Sylviane, Fauré, Julien, Bottari, Serge P., Coutton, Charles, Ray, Pierre F., Arnoult, Christophe
• Format: Journal Article
• Language: English
• Published: Wiley Open Access 01.08.2017
• Subjects: Genetics; Human genetics; Life Sciences; Urogenital System; exome sequencing; genetics; azoospermia; spermatogenesis; infertility; Gene Therapy & Genetic Disease; spermatogenesis Subject Categories Genetics

Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic brothers allowed the identification of a homozygous splice mutation in SPINK2, encoding a serine proteas...