Is macrothrombocytopenia and progressive deafness due to a mutation in MYH9?
A single base pair transition in MYH9, resulting in an amino acid substitution D1424N, is responsible for macrothrombocytopenia and hearing loss in the kindred under study. The presence of hearing impairment and the absence of renal symptoms, as reported in other families with the same mutation MYH9, further highlights the role of genetic background in expression and modification of the affected phenotype.
This pilot study suggests that, when quantified by MRI and PET imaging, left ventricular mass and brain metabolism of elderly individuals are related to the cPP and to the 50  mmHg threshold, corresponding to what has previously been documented for the risk of cardiovascular event.