Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

doi:10.1210/jc.2007-2654

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Article

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

The Journal of clinical endocrinology and metabolism - 1 Sept 2008

Cole Lindsay W, Sidis Yisrael, Zhang ChengKang, Quinton Richard, Plummer Lacey, Pignatelli Duarte, Hughes Virginia A, Dwyer Andrew A, Raivio Taneli, Hayes Frances J, Seminara Stephanie B, Huot Celine, Alos Nathalie, Speiser Phyllis, Takeshita Akira, Van Vliet Guy, Pearce Simon, Crowley William F, Zhou Qun-Yong, Pitteloud Nelly

Abstract excerpt

CONTEXT: Mice deficient in prokineticin 2(PROK2) and prokineticin receptor2 (PROKR2) exhibit variable olfactory bulb dysgenesis and GnRH neuronal migration defects reminiscent of human GnRH deficiency. OBJECTIVES: We aimed to screen a large cohort of patients with Kallmann syndrome (KS) and normosmic idiopathic hypogonadotropic hypogonadism (IHH) for mutations in PROK2/PROKR2, evaluate their prevalence, define...

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Identifiers

PMID: 18559922
DOI: 10.1210/jc.2007-2654
PMCID: PMC2567850

Genes

PROK2
PROKR2
IHH

Variants

Provenance

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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