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Human diseases caused by homozygous PTH1R mutations.

Ignacio Portales-Castillo1, Jakob Höppner2, Harald Jüppner2,3

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Frontiers in Endocrinology
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Summary

Mutations in the parathyroid hormone receptor type 1 (PTH1R) cause skeletal and mineral disorders. Even minor PTH1R defects lead to conditions like Eiken syndrome and tooth eruption failure.

Keywords:
BlomstrandEikenGPCRPTH1Rdelayed ossificationgrowth platetooth eruptionβarrestin

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Area of Science:

  • Endocrinology
  • Skeletal Biology
  • Genetics

Background:

  • The parathyroid hormone receptor type 1 (PTH1R) is crucial for calcium homeostasis and skeletal development, mediating signals from parathyroid hormone (PTH) and PTH-related protein (PTHrP).
  • Loss-of-function mutations in PTH1R can lead to severe developmental disorders, such as Blomstrand's lethal chondrodysplasia, characterized by accelerated growth plate ossification.

Purpose of the Study:

  • To investigate the spectrum of clinical phenotypes associated with PTH1R mutations.
  • To understand the functional consequences of various PTH1R mutations, including those in transmembrane helices, extracellular domains, and the C-tail.
  • To explore the relationship between specific PTH1R mutations and the resulting skeletal and mineral abnormalities.

Main Methods:

  • Analysis of patient genetic data to identify PTH1R mutations.
  • Clinical evaluation of patients with identified PTH1R mutations, focusing on skeletal and mineral abnormalities.
  • Pharmacologic characterization of mutant PTH1R proteins to assess their function.

Main Results:

  • Homozygous mutations in PTH1R cause lethal chondrodysplasia with accelerated ossification.
  • Milder skeletal and mineral abnormalities, including Eiken syndrome (delayed ossification) and hypocalcemia, result from homozygous mutations in specific PTH1R domains.
  • Heterozygous PTH1R mutations are often linked to primary failure of tooth eruption.

Conclusions:

  • PTH1R mutations represent a significant genetic cause of diverse skeletal dysplasias and mineral imbalances.
  • The location and type of PTH1R mutation correlate with the severity and specific phenotype of the disorder.
  • Detailed functional studies of PTH1R mutants are essential for understanding disease mechanisms and potential therapeutic targets.