Abstract
BackgroundGrebe-type chondrodysplasia (GCD) is a rare autosomal recessive syndrome characterized by severe acromesomelic limb shortness with non-functional knob like fingers resembling toes. Mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene cause Grebe-type chondrodysplasia.MethodsGenotyping of six members of a Pakistani family with Grebe-type chondrodysplasia, including two affected and four unaffected individuals, was carried out by using polymorphic microsatellite markers, which are closely linked to CDMP1 locus on chromosome 20q11.22. To screen for a mutation in CDMP1 gene, all of its coding exons and splice junction sites were PCR amplified from genomic DNA of affected and unaffected individuals of the family and sequenced directly in an ABI Prism 310 automated DNA sequencer.ResultsGenotyping results showed linkage of the family to CDMP1 locus. Sequence analysis of the CDMP1 gene identified a novel four bases insertion mutation (1114insGAGT) in exon 2 of the gene causing frameshift and premature termination of the polypeptide.ConclusionWe describe a 4 bp novel insertion mutation in CDMP1 gene in a Pakistani family with Grebe-type chondrodysplasia. Our findings extend the body of evidence that supports the importance of CDMP1 in the development of limbs.
Highlights
Grebe-type chondrodysplasia (GCD) is a rare autosomal recessive syndrome characterized by severe acromesomelic limb shortness with non-functional knob like fingers resembling toes
Grebe-type chondrodysplasia is a rare autosomal recessive syndrome characterized by severe acromesomelia, dwarfism, severe micromelia with increasing severity in a proximo-distal gradient and deformation of upper and lower limbs [1]
Grebe-type chondrodysplasia is caused by mutations in the cartilage derived bone morphogenetic protein1 (CDMP1), located on chromosome 20q11.22
Summary
Grebe-type chondrodysplasia (GCD) is a rare autosomal recessive syndrome characterized by severe acromesomelic limb shortness with non-functional knob like fingers resembling toes. Mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene cause Grebe-type chondrodysplasia. Grebe-type chondrodysplasia is a rare autosomal recessive syndrome characterized by severe acromesomelia, dwarfism, severe micromelia with increasing severity in a proximo-distal gradient and deformation of upper and lower limbs [1]. It is characterized by extremely short limbs, the legs being more severely affected than arms. Grebe-type chondrodysplasia is caused by mutations in the cartilage derived bone morphogenetic protein (CDMP1), located on chromosome 20q11.22. The CDMP1 gene is predominantly expressed in cartilaginous tissues of the developing long bones and the more distal elements of the appendicular skeleton that develop from the budding limb [3]
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