Journal of Medical Genetics and Genomics
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Article Number - F0E6D6E42844


Vol.6(1), pp. 6-10 , January 2014
DOI: 10.5897/JMGG2013.0072
ISSN: 2141-2278



Full Length Research Paper

Mutation N308T of protein tyrosine phosphatase SHP-2 in two Senegalese patients with Noonan syndrome



Rokhaya Ndiaye
  • Rokhaya Ndiaye
  • Laboratoire de Cytologie Clinique, Cytogénétique et Biologie de la Reproduction et du Développement, CHU Le Dantec, Dakar, Senegal.Laboratoire de Biochimie Pharmaceutique, FMPO, UCAD, Dakar, Senegal.
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Coumba Ndiaye
  • Coumba Ndiaye
  • Laboratoire de Cytologie Clinique, Cytogénétique et Biologie de la Reproduction et du Développement, CHU Le Dantec, Dakar, Senegal.
  • Google Scholar
Mohamed Leye
  • Mohamed Leye
  • Service de Cardiologie, CHUN de Fann, Dakar, Senegal.
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Babacar Mbengue
  • Babacar Mbengue
  • Laboratoire d’Immunologie, FMPO, UCAD, Dakar, Senegal.
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Mama Sy Diallo
  • Mama Sy Diallo
  • Laboratoire de Cytologie Clinique, Cytogénétique et Biologie de la Reproduction et du Développement, CHU Le Dantec, Dakar, Senegal.
  • Google Scholar
Jean Pascal Demba Diop
  • Jean Pascal Demba Diop
  • Laboratoire de Cytologie Clinique, Cytogénétique et Biologie de la Reproduction et du Développement, CHU Le Dantec, Dakar, Senegal.
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Omar Faye
  • Omar Faye
  • Laboratoire de Cytologie Clinique, Cytogénétique et Biologie de la Reproduction et du Développement, CHU Le Dantec, Dakar, Senegal.
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Ibrahima Bara Diop
  • Ibrahima Bara Diop
  • Service de Cardiologie, CHUN de Fann, Dakar, Senegal.
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Haby Signaté Sy
  • Haby Signaté Sy
  • Hôpital d’Enfants Albert Royer, CHUN de Fann, Dakar, Senegal.
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 Accepted: 06 January 2014  Published: 31 January 2014

Copyright © 2014 Author(s) retain the copyright of this article.
This article is published under the terms of the Creative Commons Attribution License 4.0


Noonan syndrome is a genetic autosomal dominant disorder characterized by facial dysmorphy, short stature, delayed puberty and congenital heart defects. The first gene implicated in this syndrome is PTPN11, encoding protein tyrosine phosphatase SHP-2. Several studies worldwide have identified missense mutations in this gene in patients with Noonan syndrome. Our objective focused on mutations screening of PTPN11 on a Senegalese population with Noonan syndrome. Six patients clinically diagnosed with Noonan syndrome were included in this study. DNA was extracted from whole blood by phenol chloroform. Mutation screening was performed by bidirectional sequencing of amplified polymerase chain reaction (PCR) products of PTPN11 exons frequently mutated in Noonan syndrome. This study identified in two patients, a c.923A˃C mutation in exon 8, predicting Asn308Thr (N308T) on SHP-2 protein. This is the first time that this mutation is described in Noonan syndrome in Africa, while codon 308 was reported as a hot spot mutation site in other populations. Frequently reported amino acid substitutions were Asn308Asp and Asn308Ser. All these mutations affected the protein tyrosine phosphatase domain (PTP) of SHP-2 protein exerting a gain of function which would likely explain observed phenotypes in patients.

Key words: Mutation, N308T, protein tyrosine phosphatise (PTP), SHP-2 protein, Noonan syndrome, Senegal.

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APA Ndiaye, R., Ndiaye, C., Leye, M., Mbengue, B., Diallo, M. S., Diop, J. P. D., Faye, O., Diop, I. B., & Sy, H. S. (2014). Mutation N308T of protein tyrosine phosphatase SHP-2 in two Senegalese patients with Noonan syndrome. Journal of Medical Genetics and Genomics, 6(1), 6-10.
Chicago Rokhaya Ndiaye, Coumba Ndiaye, Mohamed Leye, Babacar Mbengue, Mama Sy Diallo, Jean Pascal Demba Diop, Omar Faye, Ibrahima Bara Diop and Haby Signat&e Sy. "Mutation N308T of protein tyrosine phosphatase SHP-2 in two Senegalese patients with Noonan syndrome." Journal of Medical Genetics and Genomics 6, no. 1 (2014): 6-10.
MLA Rokhaya Ndiaye, et al. "Mutation N308T of protein tyrosine phosphatase SHP-2 in two Senegalese patients with Noonan syndrome." Journal of Medical Genetics and Genomics 6.1 (2014): 6-10.
   
DOI 10.5897/JMGG2013.0072
URL http://academicjournals.org/journal/JMGG/article-abstract/F0E6D6E42844

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