PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome

dc.contributor.authorKavamura, M. I.
dc.contributor.authorPomponi, M. G.
dc.contributor.authorZollino, M.
dc.contributor.authorLecce, R.
dc.contributor.authorMurdolo, M.
dc.contributor.authorBrunoni, Decio [UNIFESP]
dc.contributor.authorAlchorne, Maurício Mota de Avelar [UNIFESP]
dc.contributor.authorOpitz, J. M.
dc.contributor.authorNeri, G.
dc.contributor.institutionUniv Sacred Heart
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T12:33:38Z
dc.date.available2016-01-24T12:33:38Z
dc.date.issued2003-01-01
dc.description.abstractCardiofaciocutaneous (CFC) syndrome is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation. It was described in 1986, and to date is of unknown genetic etiology. All reported cases are sporadic, born to non-consanguineous parents and have apparently normal chromosomes. Noonan and Costello syndromes remain its main differential diagnosis. the recent finding of PTPN11 missense mutations in 45-50% of the Noonan patients studied with penetrance of almost 100% and the fact that in animals mutations of this gene cause defects of semilunar valvulogenesis, made PTPN11 mutation screening in CFC patients a matter of interest. We sequenced the entire coding region of the PTPN11 gene in ten well-characterised CFC patients and found no base changes. We also studied PTPN11 cDNA in our patients and demonstrated that there are no interstitial deletions either. the genetic cause of CFC syndrome remains unknown, and PTPN11 can be reasonably excluded as a candidate gene for the CFC syndrome, which we regard as molecular evidence that CFC and Noonan syndromes are distinct genetic entities.en
dc.description.affiliationUniv Sacred Heart, Ist Genet Med, I-00168 Rome, Italy
dc.description.affiliationUniversidade Federal de São Paulo, Escola Paulista Med, Ctr Med Genet, São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Escola Paulista Med, Dept Dermatol, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Escola Paulista Med, Ctr Med Genet, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Escola Paulista Med, Dept Dermatol, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent64-68
dc.identifierhttp://dx.doi.org/10.1038/sj.ejhg.5200911
dc.identifier.citationEuropean Journal of Human Genetics. London: Nature Publishing Group, v. 11, n. 1, p. 64-68, 2003.
dc.identifier.doi10.1038/sj.ejhg.5200911
dc.identifier.issn1018-4813
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/27075
dc.identifier.wosWOS:000180690600011
dc.language.isoeng
dc.publisherNature Publishing Group
dc.relation.ispartofEuropean Journal of Human Genetics
dc.rightsAcesso aberto
dc.subjectCardiofaciocutaneous syndromeen
dc.subjectPTPN11 geneen
dc.subjectchromosome 12en
dc.titlePTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndromeen
dc.typeArtigo
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