A novel de novo TBX5 mutation in a patient with Holt–Oram syndrome leading to a dramatically reduced biological function

ConclusionThese results suggest that the dramatic functional alteration of the p.Pro85Thr mutation leads to the distinctive phenotype of the patient.

We have identified a so far unpublished TBX5 mutation which occurs de novo in the patient diagnosed for HOS with healthy parents. The mutation is located in a highly conserved region of TBX5 and is predicted to be damaging. Functional experiments confirmed a dramatically reduced biological activity of the mutated TBX5 protein.

Source: Molecular Genetics & Genomic Medicine - July 13, 2016 Category: Genetics & Stem Cells Authors: Martina Dreßen, Harald Lahm, Armin Lahm, Klaudia Wolf, Stefanie Doppler, Marcus‐André Deutsch, Julie Cleuziou, Jelena Pabst von Ohain, Patric Schön, Peter Ewert, Ivan Malcic, Rüdiger Lange, Markus Krane Tags: Original Article Source Type: research