| SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. | |
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MedLine Citation:
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PMID: 19352411 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report five cases of multiple giant cell lesions in patients with typical Noonan syndrome. Such association has frequently been referred to as Noonan-like/multiple giant cell (NL/MGCL) syndrome before the molecular definition of Noonan syndrome. Two patients show mutations in PTPN11 (p.Tyr62Asp and p.Asn308Asp) and three in SOS1 (p.Arg552Ser and p.Arg552Thr). The latter are the first SOS1 mutations reported outside PTPN11 in NL/MGCL syndrome. MGCL lesions were observed in jaws ('cherubism') and joints ('pigmented villonodular synovitis'). We show through those patients that both types of MGCL are not PTPN11-specific, but rather represent a low penetrant (or perhaps overlooked) complication of the dysregulated RAS/MAPK signaling pathway. We recommend discarding NL/MGCL syndrome from the nosology, as this presentation is neither gene-nor allele-specific of Noonan syndrome; these patients should be described as Noonan syndrome with MGCL (of the mandible, the long bone...). The term cherubism should be used only when multiple giant cell lesions occur without any other clinical and molecular evidence of Noonan syndrome, with or without mutations of the SH3BP2 gene. |
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Authors:
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Claire Beneteau; Hélène Cavé; Anne Moncla; Nathalie Dorison; Arnold Munnich; Alain Verloes; Bruno Leheup |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-04-08 |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: 17 ISSN: 1476-5438 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-09-24 Completed Date: 2009-12-14 Revised Date: 2010-12-17 |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: England |
Other Details:
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Languages: eng Pagination: 1216-21 Citation Subset: IM |
Affiliation:
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Service de Médecine Infantile III et Génétique Clinique, Hôpital d'Enfants CHU de Nancy, Faculté de Médecine Nancy Université Henri Poincaré, Vandoeuvre, France. c.beneteau@chu-nancy.fr |
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Alleles Cherubism / genetics Child Giant Cells / cytology* Humans Male Mutation* Noonan Syndrome / genetics* Phenotype Pigmentation Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics* SOS1 Protein / genetics* Signal Transduction Syndrome |
| Chemical | |
Reg. No./Substance:
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0/SOS1 Protein; EC 3.1.3.48/PTPN11 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatase, Non-Receptor Type 11 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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