MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

European Journal of Medical Genetics - Tập 56 - Trang 7-12 - 2013
Daniela De Rocco1, Barbara Zieger2, Helen Platokouki3, Paula G. Heller4, Annalisa Pastore5, Roberta Bottega6, Patrizia Noris7, Serena Barozzi7, Ana C. Glembotsky4, Helen Pergantou3, Carlo L. Balduini7, Anna Savoia1,8, Alessandro Pecci7
1Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy
2Department of Pediatric and Adolescent Medicine, University of Freiburg, Germany
3Haemophilia Centre-Haemostasis Unit, “Aghia Sophia” Children's Hospital, Athens, Greece
4Department of Hematology Research, Instituto de Investigaciones Médicas Alfredo Lanari, University of Buenos Aires, CONICET, Argentina
5National Institute for Medical Research, London, United Kingdom
6Institute for Maternal, and Child Health - IRCCS “Burlo Garofolo”, Trieste, Italy
7Department of Internal Medicine, University of Pavia and IRCCS Policlinico San Matteo Foundation, Pavia, Italy
8Department of Medical Sciences, University of Trieste, Trieste, Italy

Tài liệu tham khảo

Althaus, 2009, MYH9-related platelet disorders, Semin. Thromb. Hemost., 35, 189, 10.1055/s-0029-1220327

Balduini, 2011, Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias, Br. J. Haematol., 154, 161, 10.1111/j.1365-2141.2011.08716.x

Kunishima, 2003, Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations, Lab. Invest., 83, 115, 10.1097/01.LAB.0000050960.48774.17

Kunishima, 2010, Advances in the understanding of MYH9 disorders, Curr. Opin. Hematol., 17, 405, 10.1097/MOH.0b013e32833c069c

Pecci, 2008, Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner–Epstein syndrome), Nephrol. Dial. Transplant., 23, 2690, 10.1093/ndt/gfn277

Kelley, 2000, Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May–Hegglin anomaly, Nat. Genet., 26, 106, 10.1038/79069

2000, The May–Hegglin/Fechtner syndrome consortium, mutations in MYH9 result in the May–Hegglin anomaly, and Fechtner and Sebastian syndromes, Nat. Genet., 26, 103, 10.1038/79063

Han, 2011, Renal manifestations of patients with MYH9-related disorders, Pediatr. Nephrol., 26, 549, 10.1007/s00467-010-1735-3

Pecci, 2008, Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease, Hum. Mutat., 29, 409, 10.1002/humu.20661

Savoia, 2010, Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder, Thromb. Haemost., 103, 826, 10.1160/TH09-08-0593

De Rocco, 2009, MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene, Platelets, 10.3109/09537100903349620

Burt, 2008, Description of a novel mutation leading to MYH9-related disease, Thromb. Res., 122, 861, 10.1016/j.thromres.2008.06.011

De Rocco, 2009, Identification of the first duplication in MYH9-related disease: a hot spot for hot unequal crossing-over within exon 24 of the MYH9 gene, Eur. J. Med. Genet., 52, 191, 10.1016/j.ejmg.2009.01.006

Miyazaki, 2009, Identification of three in-frame deletion mutations in MYH9 disorders suggesting an important hot spot for small rearrangements in MYH9 exon 24, Eur. J. Haematol., 83, 230, 10.1111/j.1600-0609.2009.01274.x

Blair, 2002, Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy, Circ. Res., 90, 263, 10.1161/hh0302.104532

Dong, 2005, Genotype-phenotype correlation in MYH9-related thrombocytopenia, Br. J. Haematol., 130, 620, 10.1111/j.1365-2141.2005.05658.x

Geddis, 2007, Diagnosis of immune thrombocytopenic purpura in children, Curr. Opin. Hematol., 14, 520, 10.1097/MOH.0b013e3282ab98f2