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

Leszek Janusz; Justyna Morawska; Ewa Wasilewska; Stanisław Sierakowski; Alina T Midro

[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]

Authors

Leszek Janusz¹, Justyna Morawska, Ewa Wasilewska, Stanisław Sierakowski, Alina T Midro

Affiliation

¹ Studenckie Koło Naukowe przy Zakładzie Genetyki Klinicznej Uniwersytetu Medycznego w Białymstoku.

PMID: 21387769

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