de.mpg.escidoc.pubman.appbase.FacesBean
English
 
Help Guide Disclaimer Contact us Login
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT

Released

Journal Article

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

MPS-Authors
http://pubman.mpdl.mpg.de/cone/persons/resource/persons50437

Mundlos,  Stefan
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

Locator
There are no locators available
Fulltext (public)
There are no public fulltexts available
Supplementary Material (public)
There is no public supplementary material available
Citation

Douzgou, S., Lehmann, K., Mingarelli, R., Mundlos, S., & Dallapiccola, B. (2008). Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. American Journal of Medical Genetics Part A, 146A(16), 2116-2121. doi:10.1002/ajmg.a.32435.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-7F83-E
Abstract
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.