RT Journal Article
SR Electronic
T1 RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 287
OP 290
DO 10.1136/jmg.34.4.287
VO 34
IS 4
A1 M M Power
A1 R S James
A1 J C Barber
A1 A M Fisher
A1 P J Wood
A1 B A Leatherdale
A1 D E Flanagan
A1 E Hatchwell
YR 1997
UL http://jmg.bmj.com/content/34/4/287.abstract
AB 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.