| McCune-Albright syndrome and disorders due to activating mutations of GNAS1. | |
| | |
MedLine Citation:
|
PMID: 17937059 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
It has been more than seven decades since Drs. Fuller Albright and Donovan McCune published the first reports on individuals with McCune-Albright syndrome (MAS). Since then, the classic triad of precocious puberty, café-aulait spots, and polyostotic bone dysplasia continues to define the syndrome. However, having gathered a better picture of the pathophysiology of MAS, the way this condition is understood has changed. Isolated activating mutations of the alpha subunit of the G protein (GNAS1) have been found in different tissues, including pituitary adenomas, thyroid adenomas, ovarian cysts, monostotic bone dysplasia, and the adrenal glands, to name a few. For this reason, we have added 'and disorders due to activating mutations of GNAS1' to the title of this review. We discuss here the clinical consequences of GNAS1 activating mutations in different body systems and organs, the diagnostic approach to MAS, and the current therapeutic recommendations. |
| | |
Authors:
|
Alejandro Diaz; Marco Danon; John Crawford |
Related Documents
:
|
12237319 - Mutations in human nonmuscle myosin iia found in patients with may-hegglin anomaly and ... 19407499 - Noonan syndrome, the ras-mapk signalling pathway and short stature. 17449949 - The first korean case of beare-stevenson syndrome with a tyr375cys mutation in the fibr... 20411059 - Gitelman syndrome: first report of genetically established diagnosis in greece. 16369799 - Lethal proliferation of erythroid precursors in a neonate with a germline ptpn11 mutation. 15828709 - Craniosynostosis syndromes in the genomic era. 19474829 - Opinion: ocular features aid the diagnosis of alport syndrome. 21502109 - Compartment syndrome in the setting of vascular injury. 15005259 - An abrupt onset of seropositive polyarthritis with prominent distal tenosynovitis conco... |
Publication Detail:
|
Type: Journal Article; Review |
Journal Detail:
|
Title: Journal of pediatric endocrinology & metabolism : JPEM Volume: 20 ISSN: 0334-018X ISO Abbreviation: J. Pediatr. Endocrinol. Metab. Publication Date: 2007 Aug |
Date Detail:
|
Created Date: 2007-10-16 Completed Date: 2007-11-09 Revised Date: 2009-11-19 |
Medline Journal Info:
|
Nlm Unique ID: 9508900 Medline TA: J Pediatr Endocrinol Metab Country: England |
Other Details:
|
Languages: eng Pagination: 853-80 Citation Subset: IM |
Affiliation:
|
Division of Pediatric Endocrinology, Weill Medical College of Cornell University, New York, NY, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Bone Diseases, Developmental
/
genetics Endocrine System Diseases / genetics Female Fibrous Dysplasia, Polyostotic / genetics*, metabolism, therapy GTP-Binding Protein alpha Subunits, Gs / genetics*, metabolism Humans Male Mutation / genetics* Skin Diseases / genetics |
| Chemical | |
Reg. No./Substance:
|
EC 3.6.1.-/GNAS protein, human; EC 3.6.5.1/GTP-Binding Protein alpha Subunits, Gs |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Reliability and validity of the power-mobility community driving assessment.
Next Document: Growth and pubertal characteristics in patients with congenital adrenal hyperplasia due to 21-hydrox...