An ancient founder mutation in PROKR2 impairs human reproduction.

doi:10.1093/hmg/dds264

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Article

An ancient founder mutation in PROKR2 impairs human reproduction.

Human molecular genetics - 1 Oct 2012

Avbelj Stefanija Magdalena, Jeanpierre Marc, Sykiotis Gerasimos P, Young Jacques, Quinton Richard, Abreu Ana Paula, Plummer Lacey, Au Margaret G, Balasubramanian Ravikumar, Dwyer Andrew A, Florez Jose C, Cheetham Timothy, Pearce Simon H, Purushothaman Radhika, Schinzel Albert, Pugeat Michel, Jacobson-Dickman Elka E, Ten Svetlana, Latronico Ana Claudia, Gusella James F, Dode Catherine, Crowley William F, Pitteloud Nelly

Abstract excerpt

Congenital gonadotropin-releasing hormone (GnRH) deficiency manifests as absent or incomplete sexual maturation and infertility. Although the disease exhibits marked locus and allelic heterogeneity, with the causal mutations being both rare and private, one causal mutation in the prokineticin receptor, PROKR2 L173R, appears unusually prevalent among GnRH-deficient patients of diverse geographic and ethnic...

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Identifiers

PMID: 22773735
DOI: 10.1093/hmg/dds264
PMCID: PMC3441126

Genes

PROKR2

Variants

Provenance

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