E. Ciara and colleagues conduct a study to assess the diagnostic value of biochemical methods in recognition of Pyruvate dehydrogenase complex (PDHc) defect in Polish patients with suspicion of mitochondrial disorders (MD). They also conducted whole exome sequencing and identified seven different PDHA1 changes, including two novel variants [c.464T > C (p.Met155Thr) and c.856_859dupACTT (p.Arg288Leufs*10)] and one DLD variant.
Ciara, E. et al. Molecular Genetics and Metabolism Reports.
"I have previously used Alamut Visual in the UK and it is an invaluable resource for variant curation which I was keen to bring into use in my new role in New Zealand. provides a convenient and user-friendly interface which pulls together literature searches, population databases and in silico prediction tools. This enables streamlining of the curation process and saves a lot of time."
Wellington Regional Genetics Laboratory, Wellington, New Zealand