Pseudohypoparathyreoidismus und epigenetische Veränderungen des GNAS-Genlocus

Translated title of the contribution: Pseudohypoparathyroidism and epigenetic alterations of the GNAS gene locus

S. Thiele*, O. Hiort

*Corresponding author for this work


The term pseudohypoparathyroidism (PHP) describes a heterogeneous group of related disorders characterized by end-organ resistance to parathyroid hormone (PTH). PHP is caused by deficiency of the α-subunit of stimulatory G proteins (Gsα), which is crucial for signal transduction of more than 1000 G protein-coupled receptors into the cell. PHP type Ia is caused by heterozygous, maternally inherited inactivating mutations involving those exons of the GNAS locus that encode Gsα. In addition, PHP Ia and Ic patients present with features of Albright hereditary osteodystrophy (AHO), which includes round face, short stature, brachymetacarpia, ectopic ossification, and mental retardation. Paternally inherited GNAS mutations lead to pseudo-PHP and are characterized by only some features of AHO in the absence of hormone resistance. PHP type Ib is caused by heterozygous, maternally inherited deletions up-stream of or within the GNAS locus that are associated with the loss of methylation at one or more maternally methylated regions within GNAS . Typically, these patients lack AHO features. This article provides an overview of the role of epigenetic factors for different PHP subtypes.

Translated title of the contributionPseudohypoparathyroidism and epigenetic alterations of the GNAS gene locus
Original languageGerman
JournalMedizinische Genetik
Issue number4
Pages (from-to)419-423
Number of pages5
Publication statusPublished - 12.2010

Research Areas and Centers

  • Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)


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