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MYH9‐Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations
Findings in genotype–phenotype correlations are essential to patients' clinical management and genetic counseling and are discussed in view of molecular pathogenesis of MYH9‐RD. Expand
MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness
The term “MHY9-related disease,” which better interprets the recent knowledge in this field and identifies all patients at risk of developing renal, hearing, or visual defects, is proposed. Expand
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare form of autosomal dominant thrombocytopenia and only 2 families were known. However, we recently identified mutations inExpand
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.
Evidence is provided that most patients with an original diagnosis of autosomal dominant macrothrombocytopenia shared clinical and molecular features with the heterozygous BSS phenotype, which means that the diagnosis of heterozygously altered Bernard-Soulier syndrome must always be suspected in patients with inherited thrombocytes and platelet macrocytosis. Expand
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
It is shown that ANKRD26, another gene within the THC2 locus, and neither MASTL nor ACBD5, is mutated in eight unrelated families, and six different AN KRD26 mutations are identified, which were clustered in a highly conserved 19 bp sequence located in the 5' untranslated region. Expand
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
Some familial platelet disorders are associated with predisposition to leukemia, myelodysplastic syndrome (MDS) or dyserythropoietic anemia. We identified a family with autosomal dominantExpand
A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders.
An unmet need is identified for further systematic evaluation of new assays and for standardisation of methodologies for clinical diagnostic laboratories for robust and accurate laboratory tests of platelet granule release. Expand
Position of nonmuscle myosin heavy chain IIA (NMMHC‐IIA) mutations predicts the natural history of MYH9‐related disease
Evaluating the clinical course of patients with mutations in the four most frequently affected residues of NMMHC‐IIA concluded that mutations at residue 1933 do not induce kidney damage or cataracts and cause deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age. Expand
Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.
The data identify a mechanism for development of the familial thrombocytopenia THC2 that is related to abnormal MAPK signaling and ERK inhibition completely rescued the in vitro proplatelet formation defect. Expand
Thrombopoietin levels in patients with primary and reactive thrombocytosis
The results indicate that TPO clearance by platelets–megakaryocytes is not fully operative or is not the only mechanism of TPO level regulation in primitive and reactive thrombocytosis. Expand