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  Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutanesous syndrome

Musante, L., Kehl, H. G., Majewski, F., Meinecke, P., Schweiger, S., Gillessen-Kaesbach, G., et al. (2003). Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutanesous syndrome. European Journal of Human Genetics, 11(2), 201-206. doi:10.1038/sj.ejhg.5200935.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8AB4-9 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8AB5-7
Genre: Journal Article
Alternative Title : Eur. J. Hum. Genet.

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 Creators:
Musante, Luciana1, Author              
Kehl, Hans G., Author
Majewski, Frank, Author
Meinecke, Peter, Author
Schweiger, Susann2, Author              
Gillessen-Kaesbach, Gabriele, Author
Wieczorek, Dagmar, Author
Hinkel, Georg K., Author
Tinschert, Siegrid, Author
Hoeltzenbein, Maria3, Author
Ropers, Hans-Hilger2, Author              
Kalscheuer, Vera M.4, Author              
Affiliations:
1Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Max Planck Society, ou_persistent13              
4Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: Noonan; PTPN11; SHP-2; CFC
 Abstract: Noonan syndrome (NS) is a relatively common, but genetically heterogeneous autosomal dominant malformation syndrome. Characteristic features are proportionate short stature, dysmorphic face, and congenital heart defects. Only recently, a gene involved in NS could be identified. It encodes the non-receptor protein tyrosine phosphatase SHP-2, which is an important molecule in several intracellular signal transduction pathways that control diverse developmental processes, most importantly cardiac semilunar valvulogenesis. We have screened this gene for mutations in 96 familial and sporadic, well-characterised NS patients and identified 15 different missense mutations in a total of 32 patients (33%), including 23 index patients. Most changes clustered in one exon which encodes parts of the N-SH2 domain. Five of the mutations were recurrent. Interestingly, no mutations in the PTPN11 gene were detected in five additional patients with cardio-facio-cutaneous (CFC) syndrome, which shows clinical similarities to NS.

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Language(s): eng - English
 Dates: 2003-02
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 127778
ISI: 000181540000016
DOI: 10.1038/sj.ejhg.5200935
 Degree: -

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Title: European Journal of Human Genetics
  Alternative Title : Eur. J. Hum. Genet.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 11 (2) Sequence Number: - Start / End Page: 201 - 206 Identifier: ISSN: 1018-4813