ArticleAmerican journal of human genetics2001
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 1 of them a synthesis that pooled it.
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99 citing papers in PubMed, 1 synthesis or guideline pooled it, 298 citations in OpenAlex.
- Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.PLoS genetics · 2016Pooled it
- The membrane skeleton density of red blood cells in MYH9-related disease patients is decreased.Bioscience reports · 2026Article
- Role of the nonhelical tailpiece of myosin-II in regulating filament architecture and function.The Journal of cell biology · 2026Article
- Dysregulation of Non-Muscle Myosin IIA Assembly and Phosphorylation in S100A4 Null Mouse Lens.Journal of cellular physiology · 2026Article
- Cryo-EM structure of shutdown human nonmuscle myosin 2A.Science advances · 2026Article
- A song of heads and tails: myosin II conformational regulation and filament dynamics shape force generation in non-muscle cells.Biophysical reviews · 2026Review
- Molecular diagnosis of inherited platelet disorder via a targeted whole-exome virtual gene panel: a 5-year institutional experience.Research and practice in thrombosis and haemostasis · 2026Article
- The Clinical Details ofGenes · 2026Article
- Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.European journal of human genetics : EJHG · 2025Article
- Implementation and clinical utility of multigene panels for bleeding, platelet, and thrombotic disorders.Journal of thrombosis and haemostasis : JTH · 2025Review
- Cisplatin-Induced APE2 Overexpression Disrupts MYH9 Function and Causes Hearing Loss.Cancer research communications · 2025Article
- Non-Muscle Myosin II A: Friend or Foe in Cancer?International journal of molecular sciences · 2024Review
- Spindle cell neoplasms with novel LTK fusion - Expanding the spectrum of kinase fusion-positive soft tissue tumors.Genes, chromosomes & cancer · 2024Article
- A Deeper Insight intoMolecular syndromology · 2024Article
- May-Hegglin anomaly associated nephropathy: Case series.SAGE open medical case reports · 2024Article
- Successful administration of eltrombopag in preparation for peritoneal dialysis catheter placement in a girl with MYH9-related disease.CEN case reports · 2023Article
- Pyruvate kinase M2 regulates mitochondrial homeostasis in cisplatin-induced acute kidney injury.Cell death & disease · 2023Article
- Nonmuscle Myosin IIA Regulates the Precise Alignment of Hexagonal Eye Lens Epithelial Cells During Fiber Cell Formation and Differentiation.Investigative ophthalmology & visual science · 2023Article
- Platelet formation and activation are influenced by neuronal guidance proteins.Frontiers in immunology · 2023Review
- A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities.Scientific reports · 2022Article
39 more citing papers are in PubMed but not listed here.
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14 authors at 10 institutions in 5 countries.
Funding
Abstract
May-Hegglin anomaly (MHA) and Fechtner (FTNS) and Sebastian (SBS) syndromes are autosomal dominant platelet disorders that share macrothrombocytopenia and characteristic leukocyte inclusions. FTNS has the additional clinical features of nephritis, deafness, and cataracts. Previously, mutations in the nonmuscle myosin heavy chain 9 gene (MYH9), which encodes nonmuscle myosin heavy chain IIA (MYHIIA), were identified in all three disorders. The spectrum of mutations and the genotype-phenotype and structure-function relationships in a large cohort of affected individuals (n=27) has now been examined. Moreover, it is demonstrated that MYH9 mutations also result in two other FTNS-like macrothrombocytopenia syndromes: Epstein syndrome (EPS) and Alport syndrome with macrothrombocytopenia (APSM). In all five disorders, MYH9 mutations were identified in 20/27 (74%) affected individuals. Four mutations, R702C, D1424N, E1841K, and R1933X, were most frequent. R702C and R702H mutations were only associated with FTNS, EPS, or APSM, thus defining a region of MYHIIA critical in the combined pathogenesis of macrothrombocytopenia, nephritis, and deafness. The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS. Haplotype analysis using three novel microsatellite markers revealed that three E1841K carriers--one with MHA and two with FTNS--shared a common haplotype around the MYH9 gene, suggesting a common ancestor. The two new globular-head mutations, K371N and R702H, as well as the recently identified MYH9 mutation, R705H, which results in DFNA17, were modeled on the basis of X-ray crystallographic data. Altogether, our data suggest that MHA, SBS, FTNS, EPS, and APSM comprise a phenotypic spectrum of disorders, all caused by MYH9 mutations. On the basis of our genetic analyses, the name "MYHIIA syndrome" is proposed to encompass all of these disorders.
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