Journal of Inherited Metabolic Disease

, Volume 15, Issue 4, pp 592–609

Molecular genetics of mineral metabolic disorders

Authors

  • R. V. Thakker
    • Division of Molecular MedicineMRC Clinical Research Centre
The X Chromosome

DOI: 10.1007/BF01799617

Cite this article as:
Thakker, R.V. J Inherit Metab Dis (1992) 15: 592. doi:10.1007/BF01799617

Summary

The recent advances in molecular biology and cytogenetics have made it possible to localize, clone and characterize some of the genetic abnormalities which result in disorders of phosphate and calcium homeostasis. Thus, the genes causing X-linked hypophosphataemic rickets, Lowe syndrome, X-linked recessive hypoparathyroidism, Di George syndrome, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2 and vitamin D-dependent rickets type I have been mapped. In addition the genes involved in the pathogenesis of the humoral hypercalcaemia of malignancy, vitamin D-dependent rickets type II, pseudohypoparathyroidism, and some of the autosomal forms of hypoparathyroidism have been cloned and the mutations characterized. The molecular and genetic studies which have mapped and identified these disease genes are described and the implications of these developments in clinical practice and in further elucidation of the mineral metabolic defects are discussed.

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© SSIEM and Kluwer Academic Publishers 1992