Molecular genetics of mineral metabolic disorders.

Conference item

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.

Authors: Thakker, R

• Publication status: Published
• Journal: Journal of inherited metabolic disease
• Volume: 15
• Issue: 4
• Pages: 592-609
• Publication date: 1992-01-01
• Event title: 29TH ANNUAL SYMP OF THE SOC FOR THE STUDY OF INBORN ERRORS OF METABOLISM ON THE MATERNALLY INHERITED AND X-LINKED METABOLIC DISEASE
• DOI: 10.1007/bf01799617
• EISSN: 1573-2665
• ISSN: 0141-8955
• Keywords: Homeostasis; Mutation; Calcium; Metabolism, Inborn Errors; Vitamin D; Phosphates; Humans