Decoding MYH9-Related Disorder: The Power of Genetic Testing

Expert Reviewed By: ⁠Dr. Brandon Colby MD

MYH9-related disorder is a rare genetic condition that affects the blood, kidneys, and other parts of the body. It is characterized by a group of disorders that share common features such as low platelet count (macrothrombocytopenia), kidney disease, and hearing loss. Early diagnosis and appropriate management of the condition can significantly improve the quality of life for affected individuals. This article provides an overview of MYH9-related disorder, the role of genetic testing in diagnosing the condition, and how it can be used to guide treatment decisions.

Understanding MYH9-Related Disorder

MYH9-related disorder is caused by mutations in the MYH9 gene, which provides instructions for making a protein called myosin-9. This protein plays a crucial role in various cellular processes, including cell division and movement. Mutations in the MYH9 gene disrupt the normal function of myosin-9, leading to the various symptoms associated with the disorder [3].

The condition is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the mutated gene to their offspring. MYH9-related disorder affects people of all ethnicities, as evidenced by a study describing a Chinese family with the disorder and a novel mutation V1516L [3].

Diagnosing MYH9-Related Disorder

Diagnosis of MYH9-related disorder involves a combination of clinical findings, laboratory tests, and genetic testing. The presence of macrothrombocytopenia, kidney disease, and hearing loss may raise suspicion of the disorder. However, definitive diagnosis requires identification of a pathogenic mutation in the MYH9 gene through genetic testing.

Genetic Testing for MYH9-Related Disorder

Genetic testing for MYH9-related disorder involves analyzing a sample of the patient’s blood or saliva to identify any mutations in the MYH9 gene. This testing can confirm the diagnosis, help predict the severity of the condition, and guide treatment decisions. It can also provide valuable information for family planning and genetic counseling.

Managing MYH9-Related Disorder

There is no cure for MYH9-related disorder, but various treatment options can help manage the symptoms and complications. These options may include medications, blood transfusions, kidney transplantation, and hearing aids.

Recent case reports have demonstrated successful surgical management and living-related kidney transplantation in patients with MYH9-related disorder and chronic renal failure [1, 2]. These cases highlight the importance of early diagnosis and appropriate management to improve patient outcomes.

Avatrombopag: A Potential Treatment for Low Platelet Count

A recent case report described a novel MYH9 gene mutation and the potential use of avatrombopag, a medication that increases platelet production, for temporarily increasing platelet count in patients with MYH9-related disorder [4]. Further research is needed to establish the safety and efficacy of avatrombopag in this patient population, but it represents a promising therapeutic option for managing low platelet count in MYH9-related disorder.

Conclusion

MYH9-related disorder is a rare genetic condition with diverse symptoms and complications. Genetic testing plays a critical role in diagnosing the disorder and guiding treatment decisions. Early diagnosis and appropriate management can significantly improve the quality of life for affected individuals. As research advances, new treatment options, such as avatrombopag, may become available to help manage the symptoms of MYH9-related disorder.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)