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  Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

Neumann, T. E., Allanson, J., Kavamura, I., Kerr, B., Neri, G., Noonan, J., et al. (2009). Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. European Journal of Human Genetics, 17(4), 420-425. doi:10.1038/ejhg.2008.188.

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Genre: Journal Article
Alternative Title : Eur J Hum Genet

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 Creators:
Neumann, Thomas E, Author
Allanson, Judith, Author
Kavamura, Ines, Author
Kerr, Bronwyn, Author
Neri, Giovanni, Author
Noonan, Jacqueline, Author
Cordeddu, Viviana, Author
Gibson, Kate, Author
Tzschach, Andreas1, Author           
Krüger, Gabriele, Author
Hoeltzenbein, Maria2, Author
Goecke, Timm O, Author
Kehl, Hans Gerd, Author
Albrecht, Beate, Author
Luczak, Klaudiusz, Author
Sasiadek, Maria M., Author
Musante, Luciana3, Author           
Laurie, Rohan, Author
Peters, Hartmut, Author
Tartaglia, Marco, Author
Zenker, Martin, AuthorKalscheuer, Vera M.4, Author            more..
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              
3Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
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 syndrome; Cardio-facio-cutaneous syndrome; Multiple giant cell lesions; Noonan-like/multiple giant cell lesion syndrome; RAS-MAPK signaling cascade
 Abstract: Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by mutations in BRAF, MEK1, MEK2, or KRAS. The NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS)). PTPN11 mutations are the only genetic abnormalities reported so far in some patients with NL/MGCLS and in one individual with LEOPARD syndrome and MGCL. In a cohort of 75 NS patients previously tested negative for mutations in PTPN11 and KRAS, we detected SOS1 mutations in 11 individuals, four of whom had MGCL. To explore further the relevance of aberrant RAS-MAPK signaling in syndromic MGCL, we analyzed the established genes causing CFCS in three subjects with MGCL associated with a phenotype fitting CFCS. Mutations in BRAF or MEK1 were identified in these patients. All mutations detected in these seven patients with syndromic MGCL had previously been described in NS or CFCS without apparent MGCL. This study demonstrates that MGCL may occur in NS and CFCS with various underlying genetic alterations and no obvious genotype–phenotype correlation. This suggests that dysregulation of the RAS-MAPK pathway represents the common and basic molecular event predisposing to giant cell lesion formation in patients with NS and CFCS rather than specific mutation effects.

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Language(s): eng - English
 Dates: 2009-04
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
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Title: European Journal of Human Genetics
  Alternative Title : Eur J Hum Genet
Source Genre: Journal
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Pages: - Volume / Issue: 17 (4) Sequence Number: - Start / End Page: 420 - 425 Identifier: ISSN: 1018-4813