Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

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

doi:10.1002/ajmg.a.32435

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Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

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

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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: https://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.