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 were early Alamut adopters and this software has become essential to our daily diagnosis lab practice, saving time and reducing mistakes. The intuitivity of use and the new functionalities are a very useful help in our daily work."
PASCALE RICHARD M.D. Ph.D.