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Article

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.

European journal of human genetics : EJHG - 1 Jul 2008

Leroy Chrystel, Fouveaut Corinne, Leclercq Sandrine, Jacquemont Sébastien, Boullay Hélène Du, Lespinasse James, Delpech Marc, Dupont Jean-Michel, Hardelin Jean-Pierre, Dodé Catherine

Abstract excerpt

Kallmann syndrome is a developmental disease that combines hypogonadotropic hypogonadism and anosmia. Putative loss-of-function mutations in PROKR2 or PROK2, encoding prokineticin receptor-2 (a G protein-coupled receptor), and one of its ligands, prokineticin-2, respectively, have recently been reported in approximately 10% of Kallmann syndrome affected individuals. Notably, given PROKR2 mutations were found in...

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Identifiers

PMID: 18285834
DOI: 10.1038/ejhg.2008.15

Genes

PROK2
PROKR2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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