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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents

ID: 127778.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutanesous syndrome
Authors:Musante, Luciana; Kehl, Hans G.; Majewski, Frank; Meinecke, Peter; Schweiger, Susann; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Hinkel, Georg K.; Tinschert, Siegrid; Hoeltzenbein, Maria; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD):2003-02
Title of Journal:European Journal of Human Genetics
Journal Abbrev.:Eur. J. Hum. Genet.
Issue / Number:2
Start Page:201
End Page:206
Copyright:© 2003 Nature Publishing Group
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free Keywords:Noonan; PTPN11; SHP-2; CFC
Comment of the Author/Creator:Date: 2003, Feb
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Max Planck Inst Mol Genet, D-14195 Berlin, Germany.; Univ Klinikum Munster, Klin & Poliklin Kinderheilkunde Kardiol, Munster, Germany.; Univ Dusseldorf, Inst Human Genet & Anthropol, Dusseldorf, Germany.; Altona Childrens Hosp, Clin Genet Unit, Hamburg, Germany.; Univ Essen Gesamthsch Klinikum, Inst Humangenet, Essen, Germany.; Tech Univ, Inst Clin Genet, Dresden, Germany.; Humboldt Univ, Charite, Inst Med Genet, Berlin, Germany.
Identifiers:ISI:000181540000016 [ID No:1]
ISSN:1018-4813 [ID No:2]
DOI:10.1038/sj.ejhg.5200935 [ID No:3]
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