We have identified a new type of skeletal dysplasia due to a COL10A1 variant. Usually, individuals carrying single mutated copies of Collagen 10 alpha-1, (COL10A1) suffer from Metaphyseal chondrodysplasia, Schmid type, […]

During this period, we have concentrated on acquiring and preparing reagents for conducting constructs to study a new gene for skeletal dysplasia. We have designed experiments to modify cell lines […]

In the exome data of one family which participated in our study, we did not find a known cause of dwarfism. Currently, we are devising strategies to follow it further. […]

We have designed assays to assess a novel variant in one gene as cause of skeletal dysplasia in a participating family. Work will commence once all reagents are received. For a new […]

We are designing assays and experiments to evaluate variants in 2 genes as novel cause of dwarfism syndrome in a family. We have obtained exome data for a family with […]

We have mostly completed analyses of samples from a family with a complex syndrome of skeletal dysplasia. We have implicated 2 genes, variants in which are causing the disorder in […]

For a family with a complex but unresolved cause of dwarfism, we have obtained exome data from a second affected individual. By comparing the data from the two individuals, we have identified a number […]

We have screened additional 50 samples for variants which were identified after exome sequencing in the data of two families with skeletal dysplasia. None of these mutations are found in […]

We have screened DNA from 50 new samples for variants in various genes which were detected after exome sequencing. We have been able to reduce the number of likely variants […]

We have continued to evaluate the variants in candidate genes in exome data for 2 families using extensive Sanger sequencing. All of these variants segregate with the phenotype and have […]