Pseudohypoparathyroidism Type Ia and Pseudo‐Pseudohypoparathyroidism: The Growing Spectrum of GNAS Inactivating Mutations. Issue 3 (18th January 2013)

• Record Type: Journal Article
• Authors: Elli, Francesca Marta; deSanctis, Luisa; Ceoloni, Barbara; Barbieri, Anna Maria; Bordogna, Paolo; Beck‐Peccoz, Paolo; Spada, Anna; Mantovani, Giovanna
• Is Part Of: Human mutation. Volume 34:Issue 3(2013:Mar.)
• Page Start: 411
• Page End: 416
• Publication Date: 2013-01-18
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22265
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22265-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Pseudohypoprathyroidism (PHP) is a rare heterogeneous genetic disorder characterized by end‐organ resistance to parathyroid hormone. Heterozygous inactivating <italic>GNAS</italic> mutations lead to either PHP type Ia or PPHP. The present work provides an updated collection of mutational and phenotypic data for both diagnostic and research purposes, as a step forward to a better understanding of PHP. The absence of genotype‐phenotype correlation supports the hypothesis of Gsα haploinsufficiency as the molecular mechanism underlying PHP, independently of the mutation type/localization. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg1tt8dhq3" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>