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

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

Autor Kavamura, M. I. Google Scholar
Pomponi, M. G. Google Scholar
Zollino, M. Google Scholar
Lecce, R. Google Scholar
Murdolo, M. Google Scholar
Brunoni, Decio Autor UNIFESP Google Scholar
Alchorne, Maurício Mota de Avelar Autor UNIFESP Google Scholar
Opitz, J. M. Google Scholar
Neri, G. Google Scholar
Instituição Univ Sacred Heart
Universidade Federal de São Paulo (UNIFESP)
Resumo Cardiofaciocutaneous (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.
Assunto Cardiofaciocutaneous syndrome
PTPN11 gene
chromosome 12
Idioma Inglês
Data 2003-01-01
Publicado em European Journal of Human Genetics. London: Nature Publishing Group, v. 11, n. 1, p. 64-68, 2003.
ISSN 1018-4813 (Sherpa/Romeo, fator de impacto)
Editor Nature Publishing Group
Extensão 64-68
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000180690600011

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