Document Detail

Expanding the genetic spectrum of Noonan syndrome.
MedLine Citation:
PMID:  18174700     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: The autosomal-dominant Noonan syndrome (MIM 163950) is characterized by short stature, typical facial dysmorphology and heart defects. Noonan syndrome is genetically heterogeneous. Over the last few years, germline mutations in four genes have been found in people with clinical signs of Noonan syndrome, accounting for approximately 65% of cases. All four genes encode proteins involved in the Ras-mitogen-activated protein kinase pathway and result in upregulation of this pathway. Recently, more data on final height after long-term growth hormone (GH) therapy has become available that shows its effectiveness in increasing final height for individuals with Noonan syndrome.
CONCLUSIONS: The genetics underlying Noonan syndrome has been partially clarified over the last 5 years and further findings will undoubtedly be reported in the next few years. GH therapy has been used to treat patients with Noonan syndrome for approximately 15 years and is effective in improving adult height in affected children.
Kees Noordam
Publication Detail:
Type:  Journal Article; Review     Date:  2007-12-10
Journal Detail:
Title:  Hormone research     Volume:  68 Suppl 5     ISSN:  1423-0046     ISO Abbreviation:  Horm. Res.     Publication Date:  2007  
Date Detail:
Created Date:  2008-01-04     Completed Date:  2008-03-20     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  0366126     Medline TA:  Horm Res     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  24-7     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2007 S. Karger AG, Basel.
Metabolic and Endocrine Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.
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MeSH Terms
Diagnosis, Differential
Genes, Dominant
Growth / drug effects
Growth Hormone / therapeutic use
Neurofibromatosis 1 / genetics
Noonan Syndrome / diagnosis,  drug therapy,  genetics*,  physiopathology
Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics
Proto-Oncogene Proteins / genetics
SOS1 Protein / genetics
ras Proteins / genetics
Reg. No./Substance:
0/KRAS protein, human; 0/Proto-Oncogene Proteins; 0/SOS1 Protein; 9002-72-6/Growth Hormone; EC protein, human; EC Tyrosine Phosphatase, Non-Receptor Type 11; EC Proteins

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