Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS


Turan S., Thiele S., Tafaj O., Brix B., Atay Z., Abali S. , ...More

BONE, vol.71, pp.53-57, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 71
  • Publication Date: 2015
  • Doi Number: 10.1016/j.bone.2014.10.006
  • Title of Journal : BONE
  • Page Numbers: pp.53-57
  • Keywords: Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism, GNAS, Hormone resistance, XL-ALPHA-S, ALBRIGHT HEREDITARY OSTEODYSTROPHY, MATERNAL TRANSMISSION, GENE, PSEUDOPSEUDOHYPOPARATHYROIDISM, DEFICIENCY, G(S)ALPHA, IA, PATHOGENESIS, ASSOCIATION

Abstract

Context: Loss-of-function GNAS mutations lead to hormone resistance and Albright's hereditary osteodystrophy (AHO) when maternally inherited, i.e. pseudohypoparathyroidism-Ia (PHPIa), but cause AHO alone when located on the paternal allele, i.e. pseudoPHP (PPHP).