Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes

Translated title of the contribution: Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients

Atilano Carcavilla, Sixto García-Miñaúr, Antonio Pérez-Aytés, Teresa Vendrell, Isabel Pinto, Encarna Guillén-Navarro, Antonio González-Meneses, Yoko Aoki, Daniel Grinberg, Begoña Ezquieta

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

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.

Translated title of the contributionCardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients
Original languageSpanish
Pages (from-to)67-72
Number of pages6
JournalMedicina Clinica
Volume144
Issue number2
DOIs
Publication statusPublished - 2015 Jan 20

Keywords

  • Cardiofaciocutaneous syndrome
  • Hypertrophic cardiomyopathy
  • LEOPARD syndrome
  • Noonan syndrome
  • Pulmonary valve stenosis

ASJC Scopus subject areas

  • Medicine(all)

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