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Article

Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.

Andrology - 1 May 2020

Pagin Adrien, Bergougnoux Anne, Girodon Emmanuelle, Reboul Marie-Pierre, Willoquaux Christelle, Kesteloot Maryse, Raynal Caroline, Bienvenu Thierry, Humbert Mathilde, Lalau Guy, Bieth Eric

Abstract excerpt

BACKGROUND: Congenital absence of vas deferens (CAVD) represents a major cause of obstructive azoospermia and is mainly related to biallelic alteration of the CFTR gene, also involved in cystic fibrosis. Using whole exome sequencing, we recently identified hemizygous loss-of-function mutations in the Adhesion G Protein-coupled Receptor G2 gene (ADGRG2) as responsible of isolated CAVD in the absence of associated...

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PMID: 31845523
DOI: 10.1111/andr.12744

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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