RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37
| Autor: | B. A. Leatherdale, John C K Barber, M. M. Power, D. E. H. Flanagan, Andrew M. Fisher, R. S. James, Peter J. Wood, E. Hatchwell |
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| Rok vydání: | 1997 |
| Předmět: |
medicine.medical_specialty
Candidate gene Adolescent Biology Fibrous Dysplasia Polyostotic Short stature Internal medicine Genetics medicine Humans Genetics (clinical) Pseudohypoparathyroidism Vasoactive intestinal peptide receptor medicine.disease Osteochondrodysplasia Phenotype Chromosome Banding Pedigree Endocrinology Chromosomes Human Pair 2 Chromosomal region Receptors Vasoactive Intestinal Peptide Pseudopseudohypoparathyroidism Female medicine.symptom Chromosome Deletion Research Article |
| Zdroj: | Journal of medical genetics. 34(4) |
| ISSN: | 0022-2593 |
| Popis: | Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism, short stature, obesity, and mental retardation. Variable biochemical changes many represent either pseudohypoparathyroidism (PHP) owing to resistance to parathormone (PTH) or pseudopseudohypoparathyroidism (PPHP) with no hormone resistance. In most cases of AHO, reduced levels of Gs alpha have been found and a number of deactivating mutations in the gene for Gs alpha located on chromosome 20q13 have been described. Recently a number of people with an AHO-like phenotype have been reported in whom a deletion of chromosomal region 2q37 has been found in the absence of biochemical abnormalities or a reduction in Gs alpha activity. We present a further female patient with a cytogenetically visible deletion of 2q37, an AHO-like phenotype, and unusual biochemistry suggesting moderate PTH resistance. The vasoactive intestinal peptide receptor (RDCI) has recently been mapped to 2q37 and we propose that this is a candidate gene, hemizygosity of which affects signal transduction and leads to the AHO-like phenotype found in patients with 2q37 deletions. |
| Databáze: | OpenAIRE |
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