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Article

Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.

Human genetics - 1 Jul 2025

Stamou Maria I, Chiu Crystal J, Jadhav Shreya V, Salnikov Kathryn B, Plummer Lacey, Seminara Stephanie B, Balasubramanian Ravikumar

Abstract excerpt

Rare variants in prokineticin 2 pathway genes (PROK2; PROKR2), cause isolated hypogonadotropic hypogonadism (IHH) in humans, leading to pubertal failure and infertility. In addition to reproduction, this pathway is also implicated in cardiovascular, metabolic, and inflammatory regulation. The role of naturally occurring PROK2/R2 variants in the general population remains unknown. Thus, we aimed to investigate the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40498399
DOI: 10.1007/s00439-025-02754-w
PMCID: PMC12817191

Genes

PROK2
PROKR2
IHH

Variants

Provenance

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