Germinal mosaicism in MYH9 disorders: a family with two affected siblings of normal parents

被引:10
作者
Kunishima, Shinji [1 ]
Takaki, Kazutaka [2 ]
Ito, Yoshimi [1 ]
Saito, Hidehiko [3 ]
机构
[1] Natl Hosp Org, Nagoya Med Ctr, Dept Adv Diag, Clin Res Ctr, Nagoya, Aichi, Japan
[2] Natl Hosp Org, Dept Paediat, Kumamoto Med Ctr, Kumamoto, Japan
[3] Nagoya Cent Hosp, Nagoya, Aichi, Japan
关键词
macrothrombocytopenia; May-Hegglin anomaly; MYH9; disorders; nonmuscle myosin heavy chain-IIA; AUTOSOMAL-DOMINANT MACROTHROMBOCYTOPENIA; LEUKOCYTE INCLUSIONS; MYH9-RELATED DISEASE; MUTATIONS; FECHTNER; EPSTEIN; GENE;
D O I
10.1111/j.1365-2141.2009.07584.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:260 / 262
页数:3
相关论文
共 10 条
[1]   Genotype-phenotype correlation in MYH9-related thrombocytopenia [J].
Dong, F ;
Li, SF ;
Pujol-Moix, N ;
Luban, NLC ;
Shin, SW ;
Seo, JH ;
Ruiz-Saez, A ;
Demeter, J ;
Langdon, S ;
Kelley, MJ .
BRITISH JOURNAL OF HAEMATOLOGY, 2005, 130 (04) :620-627
[2]   Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes [J].
Heath, KE ;
Campos-Barros, A ;
Toren, A ;
Rozenfeld-Granot, G ;
Carlsson, LE ;
Savige, J ;
Denison, JC ;
Gregory, MC ;
White, JG ;
Barker, DF ;
Greinacher, A ;
Epstein, CJ ;
Glucksman, MJ ;
Martignetti, JA .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (05) :1033-1045
[3]   De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease [J].
Kunishima, S ;
Heaton, DC ;
Naoe, T ;
Hickton, C ;
Mizuno, S ;
Saito, H ;
Kamiya, T .
BLOOD COAGULATION & FIBRINOLYSIS, 1997, 8 (05) :311-315
[4]   First description of somatic mosaicism in MYH9 disorders [J].
Kunishima, S ;
Matsushita, T ;
Yoshihara, T ;
Nakase, Y ;
Yokoi, K ;
Hamaguchi, M ;
Saito, H .
BRITISH JOURNAL OF HAEMATOLOGY, 2005, 128 (03) :360-365
[5]   Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders:: Association of subcellular localization with MYH9 mutations [J].
Kunishima, S ;
Matsushita, T ;
Kojima, T ;
Sako, M ;
Kimura, F ;
Jo, EK ;
Inoue, C ;
Kamiya, T ;
Saito, H .
LABORATORY INVESTIGATION, 2003, 83 (01) :115-122
[6]   Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions [J].
Kunishima, S ;
Matsushita, T ;
Kojima, T ;
Amemiya, N ;
Choi, YM ;
Hosaka, N ;
Inoue, M ;
Jung, Y ;
Mamiya, S ;
Matsumoto, K ;
Miyajima, Y ;
Zhang, GS ;
Ruan, CG ;
Saito, K ;
Song, KS ;
Yoon, HJ ;
Kamiya, T ;
Saito, H .
JOURNAL OF HUMAN GENETICS, 2001, 46 (12) :722-729
[7]   Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome) [J].
Kunishima, S ;
Kojima, T ;
Matsushita, T ;
Tanaka, T ;
Tsurusawa, M ;
Furukawa, Y ;
Nakamura, Y ;
Okamura, T ;
Amemiya, N ;
Nakayama, T ;
Kamiya, T ;
Saito, H .
BLOOD, 2001, 97 (04) :1147-1149
[8]   Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations [J].
Kunishima, Shinji ;
Yoshinari, Miyako ;
Nishio, Hisanori ;
Ida, Komei ;
Miura, Takuma ;
Matsushita, Tadashi ;
Hamaguchi, Motohiro ;
Saito, Hidehiko .
EUROPEAN JOURNAL OF HAEMATOLOGY, 2007, 78 (03) :220-226
[9]   Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease [J].
Pecci, Alessandro ;
Panza, Emanuele ;
Pujol-Moix, Nuria ;
Klersy, Catherine ;
Di Bari, Filomena ;
Bozzi, Valeria ;
Gresele, Paolo ;
Lethagen, Stefan ;
Fabris, Fabrizio ;
Dufour, Carlo ;
Granata, Antonio ;
Doubek, Michael ;
Pecoraro, Carmine ;
Koivisto, Pasi A. ;
Heller, Paula G. ;
Iolascon, Achille ;
Alvisi, Patrizia ;
Schwabe, Dirk ;
De Candia, Erica ;
Rocca, Bianca ;
Russo, Umberto ;
Ramenghi, Ugo ;
Noris, Patrizia ;
Seri, Marco ;
Balduini, Carlo L. ;
Savoia, Anna .
HUMAN MUTATION, 2008, 29 (03) :409-417
[10]   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 [J].
Seri, M ;
Pecci, A ;
Di Bari, F ;
Cusano, R ;
Savino, M ;
Panza, E ;
Nigro, A ;
Noris, P ;
Gangarossa, S ;
Rocca, B ;
Gresele, P ;
Bizzaro, N ;
Malatesta, P ;
Koivisto, PA ;
Longo, I ;
Musso, R ;
Pecoraro, C ;
Iolascon, A ;
Magrini, U ;
Soriano, JR ;
Renieri, A ;
Ghiggeri, GM ;
Ravazzolo, R ;
Balduini, CL ;
Savoia, A .
MEDICINE, 2003, 82 (03) :203-215