L. Ferri and colleagues report a new synonymous variant NM_000116.3 (TAZ):c.348C>T p.(Gly116Gly) observed in a young boy with Barth syndrome (BTHS). The new c.348C>T nucleotide change could alter the TAZ mRNA splicing processing. So they analyzed TAZ mRNAs in the patient’s fibroblasts and found an abnormal skipping of 24 bases (NM_000116.3:c.346_371), with the consequent ablation of 8 amino acid residues in the tafazzin protein (NP_000107.1:p.Lys117_Gly124del).
Ferri, L. et al. Clinical Genetics.
"We are very pleased with Alamut since it conveniently streamlines post-sequencing analyses of detected variants. We value the programme user friendliness and its all-in one approach to variant analysis."
PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague