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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

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Published on: September 20, 2018

McCune-Albright syndrome.

W F Schwindinger1, M A Levine

  • 1Division of Endocrinology and Metabolism, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

Trends in Endocrinology and Metabolism: TEM
|September 1, 1993
PubMed
Summary
This summary is machine-generated.

McCune-Albright syndrome (MAS) is a genetic disorder caused by G(s)alpha mutations, leading to mosaicism and affecting multiple endocrine glands. Research reveals these mutations in various organs, expanding the known clinical spectrum of this condition.

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • McCune-Albright syndrome (MAS) presents with a triad of polyostotic fibrous dysplasia, cafe-au-lait skin lesions, and endocrinopathies.
  • The underlying molecular cause is a mutation in the G(s)alpha protein, leading to constitutive adenylyl cyclase activation.

Purpose of the Study:

  • To investigate the broader clinical and molecular spectrum of McCune-Albright syndrome.
  • To identify the presence and implications of G(s)alpha mutations in additional affected tissues.

Main Methods:

  • Genetic analysis of affected tissues from patients with MAS.
  • Molecular characterization of G(s)alpha mutations and their functional consequences.

Main Results:

  • Activating G(s)alpha mutations were identified in the liver, heart, and gastrointestinal tract of MAS patients.
  • These findings indicate a more widespread tissue involvement than previously recognized.

Conclusions:

  • The molecular basis of MAS involves mosaic G(s)alpha mutations with broader tissue distribution.
  • This expands the clinical understanding and potential diagnostic scope for McCune-Albright syndrome.