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Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders
Julian Martinez-Mayer1, Maria Ines Perez-Millan1
1Instituto de Biociencia, Biotecnología y Biología Traslacional (iB3), Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina.
Abstract:
Prokineticin receptor 2 (PROKR2) encodes for a G-protein-coupled receptor that can bind PROK1 and PROK2. Mice lacking Prokr2 have been shown to present abnormal olfactory bulb formation as well as defects in GnRH neuron migration. Patients carrying mutations in PROKR2 typically present hypogonadotropic hypogonadism, anosmia/hyposmia or Kallmann Syndrome. More recently variants in PROKR2 have been linked to several other endocrine disorders. In particular, several patients with pituitary disorders have been reported, ranging from mild phenotypes, such as isolated growth hormone deficiency, to more severe ones, such as septo-optic dysplasia. Here we summarize the changing landscape of PROKR2-related disease, the variants reported to date, and discuss their origin, classification and functional assessment.
Insights
Prokineticin receptor 2 (PROKR2) gene variants cause hypogonadotropic hypogonadism and Kallmann Syndrome. New research links PROKR2 to pituitary disorders, expanding its disease spectrum.
Area of Science:
- Endocrinology
- Genetics
- Neuroscience
Background:
- Prokineticin receptor 2 (PROKR2) is a G-protein-coupled receptor binding PROK1 and PROK2.
- PROKR2 mutations are linked to hypogonadotropic hypogonadism, anosmia/hyposmia, and Kallmann Syndrome.
- Recent findings associate PROKR2 variants with diverse endocrine and pituitary disorders.
Purpose of the Study:
- To review the evolving understanding of PROKR2-related diseases.
- To catalog reported PROKR2 variants and discuss their origins.
- To analyze the classification and functional impact of PROKR2 variants.
Main Methods:
- Literature review of PROKR2-related disease.
- Analysis of reported PROKR2 variants.
- Discussion of variant classification and functional assessments.
Main Results:
- PROKR2 mutations cause hypogonadotropic hypogonadism, Kallmann Syndrome, and olfactory deficits.
- PROKR2 variants are increasingly linked to pituitary disorders, including growth hormone deficiency and septo-optic dysplasia.
- A comprehensive overview of PROKR2 variants, their origins, and functional implications is presented.
Conclusions:
- PROKR2 plays a critical role in neuroendocrine development and function.
- Understanding PROKR2 variants is crucial for diagnosing and managing a spectrum of endocrine and developmental disorders.
- Further research into PROKR2 function will elucidate its broader role in human health.
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