@article {10820,
	title = {MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.},
	journal = {Hamostaseologie},
	volume = {39},
	year = {2019},
	month = {2019 Feb},
	pages = {87-94},
	abstract = {<p>-related disease (-RD) is an autosomal-dominant thrombocytopenia caused by mutations in the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA). Patients present congenital macrothrombocytopenia and inclusions of NMMHC-IIA in leukocytes, and have a variable risk of developing kidney damage, sensorineural deafness, presenile cataracts and/or liver enzymes abnormalities. The spectrum of mutations found in -RD patients is limited and the incidence and severity of the non-congenital features are predicted by the causative  variant. In particular, different alterations of the C-terminal tail domain of NMMHC-IIA associate with remarkably different disease evolution. We report four novel  mutations affecting the tail domain of NMMHC-IIA and responsible for -RD in four families. Two variants cause amino acid substitutions in the coiled-coil region of NMMHC-IIA, while the other two are a splicing variant and a single nucleotide deletion both resulting in frameshift alterations of the short non-helical tailpiece. Characterization of phenotypes of affected individuals shows that all of these novel variants are associated with a mild clinical evolution of the disease.</p>},
	issn = {2567-5761},
	doi = {10.1055/s-0038-1645840},
	author = {Zaninetti, Carlo and De Rocco, Daniela and Giangregorio, Tania and Bozzi, Valeria and Demeter, Judit and Leoni, Pietro and Noris, Patrizia and Ryh{\"a}nen, Samppa and Barozzi, Serena and Pecci, Alessandro and Savoia, Anna}
}
@article {10748,
	title = {ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.},
	journal = {Br J Haematol},
	volume = {183},
	year = {2018},
	month = {2018 Oct},
	pages = {276-288},
	abstract = {<p>The inherited thrombocytopenias (IT) are a heterogeneous group of diseases resulting from mutations in more than 30 different genes. Among them, ACTN1-related thrombocytopenia (ACTN1-RT; Online Mendelian Inheritance in Man: 615193) is one of the most recently identified forms. It has been described as a mild autosomal dominant macrothrombocytopenia caused by mutations in ACTN1, a gene encoding for one of the two non-muscle isoforms of α-actinin. We recently identified seven new unrelated families with ACTN1-RT caused by different mutations. Two of them are novel missense variants (p.Trp128Cys and p.Pro233Leu), whose pathogenic role has been confirmed by in~vitro studies. Together with the 10 families we have previously described, our cohort of ACTN1-RT now consists of 49 individuals carrying ACTN1 mutations. This is the largest case series ever collected and enabled a critical evaluation of the clinical aspects of the disease. We concluded that ACTN1-RT is the fourth most frequent form of IT worldwide and it is characterized by platelet macrocytosis in all affected subjects and mild thrombocytopenia in less than 80\% of cases. The risk of bleeding, either spontaneous or upon haemostatic challenge, is negligible and there are no other associated defects, either congenital or acquired. Therefore, ACTN1-RT is a benign form of IT, whose diagnosis provides affected individuals and their families with a good prognosis.</p>},
	issn = {1365-2141},
	doi = {10.1111/bjh.15531},
	author = {Faleschini, Michela and Melazzini, Federica and Marconi, Caterina and Giangregorio, Tania and Pippucci, Tommaso and Cigalini, Elena and Pecci, Alessandro and Bottega, Roberta and Ramenghi, Ugo and Siitonen, Timo and Seri, Marco and Pastore, Annalisa and Savoia, Anna and Noris, Patrizia}
}
@article {10535,
	title = {A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.},
	journal = {Br J Haematol},
	volume = {181},
	year = {2018},
	month = {2018 Jun},
	pages = {698-701},
	issn = {1365-2141},
	doi = {10.1111/bjh.14694},
	author = {Noris, Patrizia and Marconi, Caterina and De Rocco, Daniela and Melazzini, Federica and Pippucci, Tommaso and Loffredo, Giuseppe and Giangregorio, Tania and Pecci, Alessandro and Seri, Marco and Savoia, Anna}
}
