[Genetic counseling in osteodystrophy Albright's syndrome. Part II. GNAS1 gene and encoded protein function, genetic forecast and treatment]

Przegl Lek. 2010;67(7):527-31.
[Article in Polish]

Abstract

In this article we describe localization and structure of genes from GNAS1 cluster, which mutations are responsible for characteristic group of features described mainly as Albright's syndrome. We present the capabilities of expressions of different phenotypes depending on types of molecular changes and possibilities of genetic prognosis with problems need to be solved in interdisciplinary support.

Publication types

  • Review

MeSH terms

  • Animals
  • Chromogranins
  • Disease Models, Animal
  • Fibrous Dysplasia, Polyostotic / diagnosis
  • Fibrous Dysplasia, Polyostotic / genetics*
  • Fibrous Dysplasia, Polyostotic / therapy
  • GTP-Binding Protein alpha Subunits, Gs / chemistry*
  • GTP-Binding Protein alpha Subunits, Gs / genetics*
  • Genetic Counseling*
  • Humans
  • Molecular Structure
  • Mutation*
  • Phenotype
  • Polymorphism, Genetic
  • Prognosis
  • Pseudohypoparathyroidism

Substances

  • Chromogranins
  • GNAS protein, human
  • Gnas protein, mouse
  • GTP-Binding Protein alpha Subunits, Gs