Does a novel deletion mutation in proteoglycan-4 underlie camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family?
We described a 2-bp novel deletion mutation in PRG4 gene in a Pakistani family with CACP. Our findings extend the body of evidence that only nonsense mutation in PRG4 gene triggers the phenotype.
TSH release is enhanced in the face of normal plasma fT4 concentrations in obese premenopausal women, and hyperleptinemia may well be involved in this neuroendocrine alteration.