ArticleHuman mutation2014
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers.
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Who cites it
94 citing papers in PubMed, 198 citations in OpenAlex.
- Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial.Haematologica · 2020Trial
- Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis · 2018Trial
- The membrane skeleton density of red blood cells in MYH9-related disease patients is decreased.Bioscience reports · 2026Article
- Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.International journal of laboratory hematology · 2026Article
- A proactive large platelet-driven screening strategy for the early recognition of MYH9-related disease: a Chinese prospective cohort study.Research and practice in thrombosis and haemostasis · 2026Article
- Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients.Molecular genetics & genomic medicine · 2026Article
- [The application of thrombopoietin receptor agonists in the treatment of non-muscle myosin heavy chain 9-related disease].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2026Review
- MYH9 mutations differentially stabilize non-muscle myosin II filaments and induce distinct cellular aggregation phenotypes.Cellular and molecular life sciences : CMLS · 2026Article
- A song of heads and tails: myosin II conformational regulation and filament dynamics shape force generation in non-muscle cells.Biophysical reviews · 2026Review
- The Clinical Details ofGenes · 2026Article
- Analysis of Platelet Membrane Glycoproteins and The Specific Antibodies in MYH9-Related Diseases.International journal of general medicine · 2026Article
- Blocking platelet glycoprotein V cleavage reduces bleeding in mouse models ofHaematologica · 2025Article
- Clinical and Molecular Spectrum of MYH9-Thrombocytopenia: Insights from a Single Centric Pediatric Cohort.Children (Basel, Switzerland) · 2025Article
- Nonmuscle myosin IIA (NMIIA) regulates anisotropic cell tension to maintain the hexagonal packing of mouse lens meridional row cells.Molecular biology of the cell · 2025Article
- Kidney pathological findings of MYH9-related disease: a cross-sectional nationwide survey in Japan.Pediatric nephrology (Berlin, Germany) · 2025Article
- How Can Molecules Induce Hemorrhoids? The Role of Genetics and Epigenetics in Hemorrhoidal Disease.International journal of molecular sciences · 2025Review
- Article
- The audiological phenotype of patients with a variant in MYH9 and MYH14 genes.Scientific reports · 2025Article
- Thrombocytopenia, renal failure and hearing loss in a young patient:BMJ case reports · 2025Article
- Diagnosis of Inherited Platelet Disorders: Clinical Evaluation and Functional and Molecular Assays.Biomolecules · 2025Review
34 more citing papers are in PubMed but not listed here.
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Authors and funding
39 authors at 20 institutions in 11 countries.
Funding
Abstract
MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC-IIA). MYH9-RD is characterized by a considerable variability in clinical evolution: patients present at birth with only thrombocytopenia, but some of them subsequently develop sensorineural deafness, cataract, and/or nephropathy often leading to end-stage renal disease (ESRD). We searched for genotype-phenotype correlations in the largest series of consecutive MYH9-RD patients collected so far (255 cases from 121 families). Association of genotypes with noncongenital features was assessed by a generalized linear regression model. The analysis defined disease evolution associated to seven different MYH9 genotypes that are responsible for 85% of MYH9-RD cases. Mutations hitting residue R702 demonstrated a complete penetrance for early-onset ESRD and deafness. The p.D1424H substitution associated with high risk of developing all the noncongenital manifestations of disease. Mutations hitting a distinct hydrophobic seam in the NMMHC-IIA head domain or substitutions at R1165 associated with high risk of deafness but low risk of nephropathy or cataract. Patients with p.E1841K, p.D1424N, and C-terminal deletions had low risk of noncongenital defects. These findings are essential to patients' clinical management and genetic counseling and are discussed in view of molecular pathogenesis of MYH9-RD.
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