A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

ABSTRACT:

Context

The α subunit of the stimulatory G protein (Gαs) links numerous receptors to adenylyl cyclase. Gαs, encoded by GNAS, is expressed predominantly from the maternal allele in certain tissues. Thus, maternal heterozygous loss-of-function mutations cause hormonal resistance, as in pseudohypoparathyroidism type Ia, whereas somatic gain-of-function mutations cause hormone-independent endocrine stimulation, as in McCune-Albright syndrome.

Objective

We report two unrelated boys presenting with a new combination of clinical findings that suggest both gain and loss of Gαs function.

Design and setting

Clinical features were studied and sequencing of GNAS was performed. Signaling capacities of wild-type and mutant Gαs were determined in the presence of different G protein-

SUBMITTER: Biebermann H 

PROVIDER: S-EPMC6380466 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature