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A Novel T55A Variant of Gs ? Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.

ABSTRACT: G-protein coupled receptors (GPCRs) mediate a wide spectrum of biological activities. The GNAS complex locus encodes the stimulatory alpha subunit of the guanine nucleotide binding protein (Gs?) and regulates production of the second messenger cyclic AMP (cAMP). Loss-of-function GNAS mutations classically lead to Albright's Hereditary Osteodystrophy (AHO) and pseudohypoparathyroidism, often with significant effects on bone formation and mineral metabolism. We present the case of a child who exhibits clinical features of osteolysis, multiple childhood fractures, and neonatal SIADH. Exome sequencing revealed a novel de novo heterozygous missense mutation of GNAS (c.163A

SUBMITTER: Wentworth K

PROVIDER: S-EPMC4992514 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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A Novel T55A Variant of Gs α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.

Wentworth Kelly K Hsing Alyssa A Urrutia Ashley A Zhu Yan Y Horvai Andrew E AE Bastepe Murat M Hsiao Edward C EC

Case reports in endocrinology 20160807

G-protein coupled receptors (GPCRs) mediate a wide spectrum of biological activities. The GNAS complex locus encodes the stimulatory alpha subunit of the guanine nucleotide binding protein (Gsα) and regulates production of the second messenger cyclic AMP (cAMP). Loss-of-function GNAS mutations classically lead to Albright's Hereditary Osteodystrophy (AHO) and pseudohypoparathyroidism, often with significant effects on bone formation and mineral metabolism. We present the case of a child who exhi ...[more]

PMID: 27579188

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