Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

• Published in: American journal of human genetics Vol. 99; no. 2; pp. 437 - 442
• Main Authors: Patat, Olivier, Pagin, Adrien, Siegfried, Aurore, Mitchell, Valérie, Chassaing, Nicolas, Faguer, Stanislas, Monteil, Laetitia, Gaston, Véronique, Bujan, Louis, Courtade-Saïdi, Monique, Marcelli, François, Lalau, Guy, Rigot, Jean-Marc, Mieusset, Roger, Bieth, Eric
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 04.08.2016; Cell Press; Elsevier (Cell Press); Elsevier
• Subjects: Cell adhesion & migration; Congenital diseases; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; DNA Mutational Analysis; Exome - genetics; Female; Gene Deletion; Genes, X-Linked - genetics; Genomics; Genotype & phenotype; Humans; Infertility; Life Sciences; Male; Male Urogenital Diseases - genetics; Mutation; Pedigree; Receptors, G-Protein-Coupled - genetics; Reproductive Biology; Sperm; Vas Deferens - abnormalities

In 80% of infertile men with obstructive azoospermia caused by a congenital bilateral absence of the vas deferens (CBAVD), mutations are identified in the cystic fibrosis transmembrane conductance regulator gene (CFTR). For the remaining 20%, the origin of the CBAVD is unknown. A large cohort of azo...