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

Abstract 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 serin...

Descrición completa

Detalles Bibliográficos

Principais autores:	Zine‐Eddine Kherraf, Marie Christou‐Kent, Thomas Karaouzene, Amir Amiri‐Yekta, Guillaume Martinez, Alexandra S Vargas, Emeline Lambert, Christelle Borel, Béatrice Dorphin, Isabelle Aknin‐Seifer, Michael J Mitchell, Catherine Metzler‐Guillemain, Jessica Escoffier, Serge Nef, Mariane Grepillat, Nicolas Thierry‐Mieg, Véronique Satre, Marc Bailly, Florence Boitrelle, Karin Pernet‐Gallay, Sylviane Hennebicq, Julien Fauré, Serge P Bottari, Charles Coutton, Pierre F Ray, Christophe Arnoult
Formato:	Artigo
Idioma:	Inglês
Publicado:	Springer Nature 2017-05-01
Series:	EMBO Molecular Medicine
Assuntos:	azoospermia exome sequencing genetics infertility spermatogenesis
Acceso en liña:	https://doi.org/10.15252/emmm.201607461
Tags:	Engadir etiqueta Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!