Craniofacial and dental development in cardio-facio-cutaneous syndrome: The importance of Ras signaling homeostasis

A. F. Goodwin, S. Oberoi, M. Landan, C. Charles, J. Groth, A. Martinez, C. Fairley, L. A. Weiss, W. E. Tidyman, O. D. Klein, Katherine A Rauen

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Cardio-facio-cutaneous syndrome (CFC) is a RASopathy that is characterized by craniofacial, dermatologic, gastrointestinal, ocular, cardiac, and neurologic anomalies. CFC is caused by activating mutations in the Ras/mitogen-activated protein kinase (MAPK) signaling pathway that is downstream of receptor tyrosine kinase (RTK) signaling. RTK signaling is known to play a central role in craniofacial and dental development, but to date, no studies have systematically examined individuals with CFC to define key craniofacial and dental features. To fill this critical gap in our knowledge, we evaluated the craniofacial and dental phenotype of a large cohort (n=32) of CFC individuals who attended the 2009 and 2011 CFC International Family Conferences. We quantified common craniofacial features in CFC which include macrocephaly, bitemporal narrowing, convex facial profile, and hypoplastic supraorbital ridges. In addition, there is a characteristic dental phenotype in CFC syndrome that includes malocclusion with open bite, posterior crossbite, and a high-arched palate. This thorough evaluation of the craniofacial and dental phenotype in CFC individuals provides a step forward in our understanding of the role of RTK/MAPK signaling in human craniofacial development and will aid clinicians who treat patients with CFC.

Original languageEnglish (US)
Pages (from-to)539-544
Number of pages6
JournalClinical Genetics
Volume83
Issue number6
DOIs
StatePublished - Jun 2013
Externally publishedYes

Fingerprint

Tooth
Homeostasis
Receptor Protein-Tyrosine Kinases
Malocclusion
Mitogen-Activated Protein Kinases
Phenotype
Megalencephaly
Open Bite
Nervous System Malformations
Cardiofaciocutaneous syndrome
Palate
Human Development
Mutation

Keywords

  • Cardio-facio-cutaneous syndrome
  • Craniofacial development
  • Malocclusion
  • MAPK pathway
  • Occlusion
  • Ras
  • RASopathy
  • Receptor tyrosine kinase
  • Signal transduction
  • Tooth development

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Craniofacial and dental development in cardio-facio-cutaneous syndrome : The importance of Ras signaling homeostasis. / Goodwin, A. F.; Oberoi, S.; Landan, M.; Charles, C.; Groth, J.; Martinez, A.; Fairley, C.; Weiss, L. A.; Tidyman, W. E.; Klein, O. D.; Rauen, Katherine A.

In: Clinical Genetics, Vol. 83, No. 6, 06.2013, p. 539-544.

Research output: Contribution to journalArticle

Goodwin, AF, Oberoi, S, Landan, M, Charles, C, Groth, J, Martinez, A, Fairley, C, Weiss, LA, Tidyman, WE, Klein, OD & Rauen, KA 2013, 'Craniofacial and dental development in cardio-facio-cutaneous syndrome: The importance of Ras signaling homeostasis', Clinical Genetics, vol. 83, no. 6, pp. 539-544. https://doi.org/10.1111/cge.12005
Goodwin, A. F. ; Oberoi, S. ; Landan, M. ; Charles, C. ; Groth, J. ; Martinez, A. ; Fairley, C. ; Weiss, L. A. ; Tidyman, W. E. ; Klein, O. D. ; Rauen, Katherine A. / Craniofacial and dental development in cardio-facio-cutaneous syndrome : The importance of Ras signaling homeostasis. In: Clinical Genetics. 2013 ; Vol. 83, No. 6. pp. 539-544.
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