Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Am J Med Genet A. 2010 Mar;152A(3):591-600. doi: 10.1002/ajmg.a.33268.

Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.

Author information

  • 1Department of Psychology, University of Wisconsin, Madison, Wisconsin 53706, USA. eipierpont@wisc.edu

Abstract

Cardiofaciocutaneous syndrome (CFC) and Noonan syndrome (NS) are two phenotypically overlapping genetic disorders whose underlying molecular etiologies affect a common signaling pathway. Mutations in the BRAF, MEK1, and MEK2 genes cause most cases of CFC and mutations in PTPN11, SOS1, KRAS, and RAF1 typically cause NS. Although both syndromes are associated with developmental delays of varying severity, the extent to which the behavioral profiles differ may shed light on the different roles these respective genes play in development of skills necessary for everyday functioning. In this study, profiles of adaptive behavior of individuals with CFC and NS who had confirmed pathogenic mutations in Ras/mitogen-activated protein kinase (MAPK) pathway genes were investigated. Patterns of strengths and weaknesses, age-related differences, and risk factors for difficulties in adaptive skills were assessed. Although genes acting more downstream in the Ras/MAPK pathway were associated with more difficulties in adaptive functioning than genes more upstream in the pathway, several inconsistencies highlight the wide spectrum of possible developmental courses in CFC and NS. Along with clinical and genetic factors, variables such as chronological age, gestational age at birth, and parental education levels accounted for significant variance in adaptive skills. Results indicate that there is wide heterogeneity in adaptive functioning in CFC and NS, but that these abilities are correlated to some extent with the specific disease-causing genes.

(c) 2010 Wiley-Liss, Inc.

PMID:
20186801
[PubMed - indexed for MEDLINE]
PMCID:
PMC3085983
Free PMC Article

Images from this publication.See all images (4)Free text

Figure 1
Figure 2
Figure 3
Figure 4
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for John Wiley & Sons, Inc. Icon for PubMed Central
    Loading ...
    Write to the Help Desk