Current Perspectives on Pseudohypoparathyroidism-New Classification

References (4)

1. Albright F, Burnett CH, Smith PH, Parson W. Pseudohypopara thyroidism-an example of "Seabright-Bantam syndrome". Endocrinology 1942;30:922-932.
2. Turan S, Bastepe M. The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted gene. Horm Res Paediatr 2013;80:229-241. Epub 2013 Oct 3 de Nanclares GP, Fernández-Rebollo E, Santin I, García- Cuartero B, Gaztambide S, Menéndez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Jüppner H, Hiort O, Castaño L, Bastepe M. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 2007;92:2370-2373. Epub 2007 Apr 3 Zazo C, Thiele S, Martín C, Fernandez-Rebollo E, Martinez- Indart L, Werner R, Garin I; Spanish PHP Group, Hiort O, Perez de Nanclares G. Gs? activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus. J Bone Miner Res 2011;26:1864-1870.
3. Turan S, Thiele S, Tafaj O, Brix B, Atay Z, Abali S, Haliloglu B, Bereket A, Bastepe M. Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS. Bone 2015;71:53-57. Epub 2014 Oct 18 Brix B, Werner R, Staedt P, Struve D, Hiort O, Thiele S. Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classification of GNAS-related disorders. J Clin Endocrinol Metab 2014;99:1564-1570. Epub 2014 May 30 Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M, Motte E, Pinto G, Chanson P, Bougnères P, Clauser E, Silve C. Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med 2011;364:2218-2226.
4. Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V. Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am J Hum Genet 2012;90:740-745. Epub 2012 Mar 29 Thiele S, Mantovani G, Barlier A, Boldrin V, Bordogna P, de SanctisL, Elli F, Freson K, Garin I, Grybek V, Hanna P, Izzi B, Hiort O, Lecumberri B, Pereda A, Saraff V, Silve C, Turan S, Usardi A, Werner R, Perez de Nanclares G, Linglart A. From Pseudohypoparat