Abstract | PURPOSE OF REVIEW: RECENT FINDINGS: SUMMARY:
Costello syndrome is caused by heterozygous de-novo point mutations in HRAS, resulting in increased activation of the mitogen-activated protein kinase pathway. Despite their overlapping presentation, Costello syndrome and its related disorders are distinct, and the phenotypes become more distinctive with age. Molecular testing is available and a clinical diagnosis should be reconsidered if it is inconsistent with the molecular result.
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Authors | Emilio Quezada, Karen W Gripp |
Journal | Current opinion in pediatrics
(Curr Opin Pediatr)
Vol. 19
Issue 6
Pg. 636-44
(Dec 2007)
ISSN: 1040-8703 [Print] United States |
PMID | 18025929
(Publication Type: Journal Article)
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Chemical References |
- KRAS protein, human
- Proto-Oncogene Proteins
- Proto-Oncogene Proteins p21(ras)
- ras Proteins
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Topics |
- Abnormalities, Multiple
(genetics)
- Child
- Developmental Disabilities
(genetics)
- Diagnosis, Differential
- Face
(abnormalities)
- Facies
- Genes, ras
(genetics)
- Genetic Predisposition to Disease
- Genotype
- Germ-Line Mutation
- Heart Diseases
(genetics)
- Humans
- Intellectual Disability
(genetics)
- LEOPARD Syndrome
(genetics)
- MAP Kinase Signaling System
(genetics)
- Neoplasms
(genetics)
- Neurofibromatosis 1
(genetics)
- Noonan Syndrome
(genetics)
- Phenotype
- Proto-Oncogene Proteins
(genetics)
- Proto-Oncogene Proteins p21(ras)
- Rhabdomyosarcoma
(genetics)
- Skin Abnormalities
(diagnosis, genetics)
- Syndrome
- ras Proteins
(genetics)
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