title: Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.
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.
authors.affiliation: IRCCS-CSS San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy.
authors.forename: Sofia
authors.initials: S
authors.lastname: Douzgou
authors.forename: Katarina
authors.initials: K
authors.lastname: Lehmann
authors.forename: Rita
authors.initials: R
authors.lastname: Mingarelli
authors.forename: Stefan
authors.initials: S
authors.lastname: Mundlos
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D005808:Genes, Recessive; D055428:Growth Differentiation Factor 5; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D013576:Syndactyly / Q000235:genetics
chemical_list: D019485:Bone Morphogenetic Proteins; C525893:GDF5 protein, human; D055428:Growth Differentiation Factor 5