AI Article Synopsis
- MYH9-related disease (MYH9-RD) is a rare genetic disorder caused by mutations in the MYH9 gene, leading to symptoms like large platelets and inclusions in white blood cells.
- A specific mutation, c.Ala95Asp, was identified in a family of eight individuals experiencing macrothrombocytopenia and hearing loss, indicating a potentially severe form of the disease.
- Despite no immediate signs of kidney disease, careful monitoring of renal health is recommended for affected family members due to potential long-term risks.
Article Abstract
MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. Patients present with congenital macrothrombocytopenia and inclusion bodies in neutrophils and might develop sensorineural deafness, presenile cataract, and/or progressive nephritis leading to end-stage renal failure. In a family with eight individuals suffering from macrothrombocytopenia and hearing impairment we identified a novel c.Ala95Asp mutation. Affecting the motor domain of the protein, the mutation is likely to be associated with a severe phenotype. Therefore, this family should be carefully monitored to follow-up the renal status even though the affected members do not seem to be at risk of early kidney disease.
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| http://dx.doi.org/10.3109/09537100903349620 | DOI Listing |
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