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Genetic causes of rickets.

W L Miller1, A A Portale

  • 1Department of Pediatrics, University of California at San Francisco, Berkeley, USA.

Current Opinion in Pediatrics
|August 10, 1999
PubMed
Summary

Genetic defects in vitamin D activation cause rickets. Mutations in the P450c1 alpha gene lead to vitamin D-dependent rickets type I, impairing growth due to insufficient 1,25(OH)2D synthesis.

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Area of Science:

  • Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Rickets results from vitamin D deficiency, impaired activation to 1,25-dihydroxyvitamin D [1,25(OH)2D], or vitamin D action disorders.
  • The key step in 1,25(OH)2D synthesis is the kidney-mediated 1 alpha-hydroxylation of 25-hydroxyvitamin D by the P450c1 alpha enzyme.
  • The P450c1 alpha gene was cloned in 1997.

Purpose of the Study:

  • To investigate the genetic basis of vitamin D-dependent rickets type I.
  • To understand the role of the P450c1 alpha gene in vitamin D metabolism.
  • To explore the genetic causes of X-linked hypophosphatemic rickets.

Main Methods:

  • Gene cloning and characterization of the P450c1 alpha enzyme.
  • Mutation analysis of the P450c1 alpha gene in patients with vitamin D-dependent rickets type I.
  • Genetic analysis of the PHEX gene in X-linked hypophosphatemic rickets.

Main Results:

  • Mutations in the P450c1 alpha gene cause 1 alpha-hydroxylase deficiency (vitamin D-dependent rickets type I).
  • This autosomal recessive disease leads to impaired renal synthesis of 1,25(OH)2D, causing rickets and growth failure.
  • Mutations in the PHEX gene are associated with X-linked hypophosphatemic rickets, a dominantly inherited disorder.

Conclusions:

  • The P450c1 alpha gene is crucial for vitamin D bioactivation and its mutations cause vitamin D-dependent rickets type I.
  • Further research is needed to elucidate the function of the PHEX gene in phosphate and vitamin D metabolism.
  • Genetic defects in vitamin D metabolism are significant causes of rickets and related bone disorders.

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