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GNAS and McCune-Albright/Fibrous Dysplasia, Albright Hereditary Osteodystrophy, and Pseudohypoparathyroidism 

GNAS and McCune-Albright/Fibrous Dysplasia, Albright Hereditary Osteodystrophy, and Pseudohypoparathyroidism
Chapter:
GNAS and McCune-Albright/Fibrous Dysplasia, Albright Hereditary Osteodystrophy, and Pseudohypoparathyroidism
Author(s):

Lee S. Weinstein

DOI:
10.1093/med/9780199934522.003.0179
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date: 24 February 2021

Gsα‎, the major gene product of GNAS, is a ubiquitously expressed G protein α‎-subunit that couples receptors to stimulation of cAMP formation. Somatic activating Gsα‎ mutations lead to excess cAMP formation. Activating mutations occurring in early development lead to a mosaic distribution of mutation-bearing cells leading to multiple clinical manifestations, including polyostotic fibrous dysplasia, endocrine tumors and hormone hypersecretion, and cafe-au-lait skin pigmentation (McCune-Albright syndrome), while mutations occurring later lead to more localized effects, such as monostotic fibrous dysplasia or isolated endocrine tumors. Heterozygous inactivating Gsα‎ mutations in the germline cause Albright hereditary osteodystrophy (AHO). Due to tissue-specific imprinting, maternally inherited mutations result in AHO plus multihormone resistance and obesity (pseudohypoparathyroidism type 1A) while paternally inherited mutations result in only the AHO phenotype. Abnormal GNAS imprinting leads to pseudohypoparathyroidism type 1B.

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