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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents



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ID: 411646.0, MPI für molekulare Genetik / Research Group Development and Disease
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia
Authors:Douzgou, Sofia; Lehmann, Katarina; Mingarelli, Rita; Mundlos, Stefan; Dallapiccola, Bruno
Language:English
Research Context:Italian Ministry of Health; Grant Number: Ricerca Corrente 2008. Deutsche Forschungsgemeinschaft; Grant Number: LE 1851/1-2.
Date of Publication (YYYY-MM-DD):2008-07-15
Title of Journal:American Journal of Medical Genetics Part A
Journal Abbrev.:Am J Med Genet A.
Volume:146A
Issue / Number:16
Start Page:2116
End Page:2121
Copyright:© 2009 Wiley-Liss, Inc., A Wiley Company
Review Status:not specified
Audience:Experts Only
Abstract / Description:Du Pan type chondrodysplasia (DPC) represents the milder end of homozygous growth differentiation factor 5 (GDF5) disorders. We report on a 20-month-old child with complex brachydactyly and mild proximal fibular hypoplasia, consistent with DPC, in the absence of other anomalies of long bones and joints. Mutational analysis disclosed two novel GDF5 mutations within the protein's mature domain and in the cleavage site of the prodomain which explains the distinct DPC phenotype found in this patient. The unaffected mother and the father who presented with mild brachybaso/mesophalangy of all digits were both heterozygous carriers.
Free Keywords:Du Pan • chondrodysplasia • GDF5 • brachydactyly • fibular hypoplasia
Comment of the Author/Creator:email: Bruno Dallapiccola (dallapiccola@css-mendel.it)
Correspondence to Bruno Dallapiccola, CSS-Mendel Institute, Viale Regina Margherita, 261, 00198 Rome, Italy.
External Publication Status:published
Document Type:Article
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:1.IRCCS-C.S.S. San Giovanni Rotondo and C.S.S. Mendel Institute, Rome, Italy;
2.Department of Experimental Medicine, Sapienza University, Rome, Italy;
3.Institut für Medizinische Genetik, Universitätsmedizin Berlin Charité, Berlin, Germany.
Identifiers:URL:http://www3.interscience.wiley.com/cgi-bin/fulltex...
DOI:10.1002/ajmg.a.32435
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