Abstract
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.
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Acknowledgements
We thank the CFC Family Network and its President, Brenda Conger and CAPES-FADA (Fundação Coordenação de Aperfeiçoamento de Pessoal de Nível Superior), São Paulo - SP, Brazil, for financial support and for their contribution to this work. We also thank Drs: Giuseppina Corona, Livia Garavelli, Fernanda Teresa de Lima, Debora Pallos, Maria Piccione, Jane Sanchez and Gioacchino Scarano, for referral of patients. We thank Drs Charles Schwartz and Ilaria Zito for their valuable suggestions to this work.
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Kavamura, M., Pomponi, M., Zollino, M. et al. PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome. Eur J Hum Genet 11, 64–68 (2003). https://doi.org/10.1038/sj.ejhg.5200911
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DOI: https://doi.org/10.1038/sj.ejhg.5200911
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