Compound heterozygosity for GDF5 in du Pan type chondrodysplasia

Sofia Douzgou, Katarina Lehmann, Rita Mingarelli, Stefan Mundlos, Bruno Dallapiccola

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)2116-2121
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number16
DOIs
Publication statusPublished - Aug 15 2008

Keywords

  • Brachydactyly
  • Chondrodysplasia
  • Du pan
  • Fibular hypoplasia
  • GDF5

ASJC Scopus subject areas

  • Genetics(clinical)

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