GNAS hyperfunction

Introduction

Also see McCune-Albright syndrome

Genetics

• associated with defects in GNAS gene
• both XLas isoforms & the ALEX protein are mutated
  • diminishes interaction between them
  • may allow unimpeded activation of the XLas isoforms

Clinical manifestations

• increased trauma-related bleeding tendency
• brachydactyly
• mental retardation

Laboratory

• prolonged bleeding time

Database

• OMIM: https://mirror.omim.org/entry/139320