TY - JOUR
T1 - Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan
T2 - hallazgos clínicos y moleculares en 11 pacientes
AU - Carcavilla, Atilano
AU - García-Miñaúr, Sixto
AU - Pérez-Aytés, Antonio
AU - Vendrell, Teresa
AU - Pinto, Isabel
AU - Guillén-Navarro, Encarna
AU - González-Meneses, Antonio
AU - Aoki, Yoko
AU - Grinberg, Daniel
AU - Ezquieta, Begoña
N1 - Publisher Copyright:
© 2014 Elsevier España, S.L.U. All rights reserved.
PY - 2015/1/20
Y1 - 2015/1/20
N2 - 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.
AB - 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.
KW - Cardiofaciocutaneous syndrome
KW - Hypertrophic cardiomyopathy
KW - LEOPARD syndrome
KW - Noonan syndrome
KW - Pulmonary valve stenosis
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U2 - 10.1016/j.medcli.2014.06.009
DO - 10.1016/j.medcli.2014.06.009
M3 - Article
C2 - 25194980
AN - SCOPUS:84920640105
VL - 144
SP - 67
EP - 72
JO - Medicina Clinica
JF - Medicina Clinica
SN - 0025-7753
IS - 2
ER -