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Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia
Author(s) -
Douzgou Sofia,
Lehmann Katarina,
Mingarelli Rita,
Mundlos Stefan,
Dallapiccola Bruno
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32435
Subject(s) - brachydactyly , phenotype , hypoplasia , cleavage (geology) , compound heterozygosity , loss of heterozygosity , genetics , biology , anatomy , allele , endocrinology , gene , short stature , paleontology , fracture (geology)
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. © 2008 Wiley‐Liss, Inc.