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Updated: Jun 20, 2026
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
CKD in MYH9-related disorders
Neeraj Singh1, Neha Nainani, Pradeep Arora
1Department of Internal Medicine, Section of Nephrology, The Ohio State University, Columbus, OH, USA. neeraj.singh@osumc.edu
Summary
MYH9-related disorders, rare genetic conditions causing chronic kidney disease (CKD), are linked to MYH9 gene mutations. These disorders, presenting in childhood with blood abnormalities, can lead to end-stage renal disease later in life.
Area of Science:
- Nephrology
- Genetics
- Hematology
Background:
- MYH9-related disorders are rare genetic conditions causing chronic kidney disease (CKD).
- They stem from mutations in the MYH9 gene, encoding nonmuscle myosin heavy chain IIA.
- These autosomal dominant disorders include May-Hegglin anomaly, Sebastian, Fechtner, and Epstein syndromes.
Purpose of the Study:
- To review the association between MYH9-related disorders and CKD.
- To highlight recent discoveries concerning the MYH9 gene.
- To explain the increased CKD risk in African Americans with MYH9 gene alterations.
Main Methods:
- Review of existing literature on MYH9-related disorders and CKD.
- Analysis of diagnostic criteria, including peripheral-blood smear findings.
- Examination of genetic evidence linking MYH9 alterations to specific kidney conditions.
Main Results:
- Diagnosis in childhood is based on thrombocytopenia, giant platelets, and leukocyte inclusions.
- CKD develops in adulthood, potentially progressing to end-stage renal disease.
- MYH9 gene alterations are linked to increased risk of focal segmental glomerulosclerosis and hypertensive nephrosclerosis in African Americans.
Conclusions:
- MYH9-related disorders are an under-recognized cause of CKD.
- Genetic factors, particularly MYH9 alterations, contribute significantly to CKD burden in certain populations.
- Understanding these genetic links is crucial for diagnosis and management of CKD.
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