Abstract
Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and skeletal anomalies and a predisposition to develop neoplasia, both benign and malignant. CS is caused by activating germline mutations in HRAS and belongs to an exciting class of genetic syndromes that are caused by perturbation of function through the Ras pathway. Some of these other syndromes include Noonan syndrome, LEOPARD syndrome, neurofibromatosis 1 and cardio-facio-cutaneous syndrome. Ras is a critical signaling hub in the cell and is activated by receptor tyrosine kinases, G-protein-coupled receptors, cytokine receptors and extracellular matrix receptors. The downstream effectors of Ras are many and control vital cellular functions including cell cycle progression, cell survival, motility, transcription, translation and membrane trafficking. Understanding the genetic etiology of CS is the first step in gaining insight to the role Ras plays in human development, cellular signaling and cancer pathogenesis.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 101-108 |
| Number of pages | 8 |
| Journal | Clinical Genetics |
| Volume | 71 |
| Issue number | 2 |
| DOIs | |
| State | Published - Feb 2007 |
| Externally published | Yes |
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Keywords
- Cardio-facio-cutaneous syndrome
- Costello syndrome
- Genotype-phenotype correlation
- Germline mutation
- HRAS mutations
- Loss of heterozygosity
- Mosaicism
- Ras pathway
- Rhabdomyosarcoma
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
HRAS and the Costello syndrome. / Rauen, Katherine A.
In: Clinical Genetics, Vol. 71, No. 2, 02.2007, p. 101-108.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - HRAS and the Costello syndrome
AU - Rauen, Katherine A
PY - 2007/2
Y1 - 2007/2
N2 - Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and skeletal anomalies and a predisposition to develop neoplasia, both benign and malignant. CS is caused by activating germline mutations in HRAS and belongs to an exciting class of genetic syndromes that are caused by perturbation of function through the Ras pathway. Some of these other syndromes include Noonan syndrome, LEOPARD syndrome, neurofibromatosis 1 and cardio-facio-cutaneous syndrome. Ras is a critical signaling hub in the cell and is activated by receptor tyrosine kinases, G-protein-coupled receptors, cytokine receptors and extracellular matrix receptors. The downstream effectors of Ras are many and control vital cellular functions including cell cycle progression, cell survival, motility, transcription, translation and membrane trafficking. Understanding the genetic etiology of CS is the first step in gaining insight to the role Ras plays in human development, cellular signaling and cancer pathogenesis.
AB - Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and skeletal anomalies and a predisposition to develop neoplasia, both benign and malignant. CS is caused by activating germline mutations in HRAS and belongs to an exciting class of genetic syndromes that are caused by perturbation of function through the Ras pathway. Some of these other syndromes include Noonan syndrome, LEOPARD syndrome, neurofibromatosis 1 and cardio-facio-cutaneous syndrome. Ras is a critical signaling hub in the cell and is activated by receptor tyrosine kinases, G-protein-coupled receptors, cytokine receptors and extracellular matrix receptors. The downstream effectors of Ras are many and control vital cellular functions including cell cycle progression, cell survival, motility, transcription, translation and membrane trafficking. Understanding the genetic etiology of CS is the first step in gaining insight to the role Ras plays in human development, cellular signaling and cancer pathogenesis.
KW - Cardio-facio-cutaneous syndrome
KW - Costello syndrome
KW - Genotype-phenotype correlation
KW - Germline mutation
KW - HRAS mutations
KW - Loss of heterozygosity
KW - Mosaicism
KW - Ras pathway
KW - Rhabdomyosarcoma
UR - http://www.scopus.com/inward/record.url?scp=33846655745&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33846655745&partnerID=8YFLogxK
U2 - 10.1111/j.1399-0004.2007.00743.x
DO - 10.1111/j.1399-0004.2007.00743.x
M3 - Review article
C2 - 17250658
AN - SCOPUS:33846655745
VL - 71
SP - 101
EP - 108
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 2
ER -