Abstract：
OBJECTIVES:To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). PATIENTS AND METHODS:Clinical data from patients submitted for genetic analysis were collected. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused on exons carrying recurrent mutations, and of all KRAS exons were performed. RESULTS:Six different mutations in BRAF were identified in 9 patients, as well as 2 MAP2K1 mutations. Short stature, developmental delay, language difficulties and ectodermal anomalies were more frequent in CFC patients when compared with other neuro-cardio-faciocutaneous syndromes (P<.05). In at least 2 cases molecular testing helped reconsider the diagnosis. DISCUSSION:CFC patients showed a rather severe phenotype but at least one patient with BRAF mutation showed no developmental delay, which illustrates the variability of the phenotypic spectrum caused by BRAF mutations. Molecular genetic testing is a valuable tool for differential diagnosis of CFC and NS related disorders.
journal_name
Med Clin (Barc)journal_title
Medicina clinicaauthors
Carcavilla A,García-Miñaúr S,Pérez-Aytés A,Vendrell T,Pinto I,Guillén-Navarro E,González-Meneses A,Aoki Y,Grinberg D,Ezquieta Bdoi
10.1016/j.medcli.2014.06.009subject
Has Abstractpub_date
2015-01-20 00:00:00pages
67-72issue
2eissn
0025-7753issn
1578-8989pii
S0025-7753(14)00567-3journal_volume
144pub_type
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