Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease

Human Mutation

Volumn 29, Issue 3, 2008, Pages 409-417

  Pecci, Alessandro ^a,v   Panza, Emanuele ^b,v   Pujol Moix, Núria ^c   Klersy, Catherine ^d,v   Di Bari, Filomena ^e   Bozzi, Valeria ^a,v   Gresele, Paolo ^f,v   Lethagen, Stefan ^g   Fabris, Fabrizio ^h,v   Dufour, Carlo ^i,v   Granata, Antonio ^j,v   Doubek, Michael ^k   Pecoraro, Carmine ^l,v   Koivisto, Pasi A ^m   Heller, Paula G ⁿ   Iolascon, Achille ^o,v   Alvisi, Patrizia ^p,v   Schwabe, Dirk ^q   De Candia, Erica ^r,v   Rocca, Bianca ^r,v   Russo, Umberto ^s,v   Ramenghi, Ugo ^t,v   Noris, Patrizia ^a,v   Seri, Marco ^b,v   Balduini, Carlo L ^a,v   Savoia, Anna ^u,v   more..

^a UNIVERSITY OF PAVIA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^e TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^f UNIVERSITY OF PERUGIA   (Italy)

^g Mental Health Services CPH   (Denmark)

^h UNIVERSITY OF PADOVA   (Italy)

ⁱ Division of Ophthalmology   (Italy)

^j UNIVERSITY OF CATANIA   (Italy)

^k UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^l SANTOBONO PAUSILIPON CHILDREN S HOSPITAL   (Italy)

^m TAMPERE UNIVERSITY HOSPITAL   (Finland)

ⁿ INSTITUTO DE INVESTIGACIONES MÉDICAS ALFREDO LANARI   (Argentina)

^o UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^p MAGGIORE HOSPITAL   (Italy)

^q GOETHE UNIVERSITY   (Germany)

^r SAPIENZA UNIVERSITY OF ROME   (Italy)

^s UNIVERSITY OF MILAN   (Italy)

^t UNIVERSITY OF TURIN   (Italy)

^u UNIVERSITY OF TRIESTE   (Italy)

^v Italian Registry for MYH9 Related Disease   (Italy)

more..

Author keywords

Epstein syndrome; Fechtner syndrome; May Hegglin anomaly; MYH9; Nonmuscle myosin IIA; Sebastian syndrome

Indexed keywords

MYOSIN HEAVY CHAIN; NONMUSCLE MYOSIN HEAVY CHAIN IIA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CATARACT; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; FECHTNER SYNDROME; FEMALE; GENE; GENE MUTATION; GENETIC RISK; GENOTYPE; HUMAN; KIDNEY FAILURE; KIDNEY INJURY; MAJOR CLINICAL STUDY; MALE; MAY HEGGLIN ANOMALY; MYH9 GENE; NEPHRITIS; NEPHROTIC SYNDROME; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RARE DISEASE; SEBASTIAN SYNDROME; SURVIVAL; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

EID: 40549091624     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20661     Document Type: Article

References (35)

1. Arrondel C, Vodovar N, Knebelmann B, Gunfeld JP, Gubler MC, Antignac C, Heidet L. 2002. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. J Am Soc Nephrol 13: 65–74.
2. Balduini CL, Iolascon A, Savoia A. 2002. Inherited thrombocytopenias: from genes to therapy. Haematologica 87: 860–880.
3. Deutsch S, Rideau A, Bochaton‐Piallat ML, Merla G, Geinoz A, Gabbiani G, Schwede T, Matthes T, Antonarakis SE, Beris P. 2003. Asp1424Asn MYH9 Mutation results in a unstable protein responsible for the phenotypes in May‐Hegglin anomaly/Fechtner syndrome. Blood 102: 529–534.
4. Dong F, Li S, Pujol‐Moix N, Luban NL, Shin SW, Seo JH, Ruiz‐Saez H, Demeter J, Lanqdon S, Kelley JM. 2005. Genotype–phenotype correlation in MYH9‐related thrombocytopenia. Br J Haematol 130: 620–627.
5. Epstein CJ, Sahud MA, Piel CF, Goodman JR, Bernfield MR, Kushner JH, Ablin AR. 1972. Hereditary macrothrombocytopenia, nephritis and deafness. Am J Med 75: 299–310.
6. Franke JD, Dong F, Rickoll WL, Kelley MJ, Kiehart DP. 2005. Rod mutations associated with MYH9‐related disorders disrupt non‐muscle myosin‐IIA assembly. Blood 105: 161–169.
7. Geddis AE, Kaushansky K. 2004. Inherited thrombocytopenias: toward a molecular understanding of disorders of platelet production. Curr Opin Pediatr 16: 15–22.
8. Greinacher A, Nieuwenhuis HK, White JG. 1990. Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. Blut 61: 282–288.
9. 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. 2001. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May‐Hegglin Anomaly and Fechtner, Sebastian, Epstein and Alport‐like syndromes. Am J Hum Genet 69: 1033–1045.
10. Hegglin R. 1945. Gleichzeitige konstitutionelle verandenugen an neutrophilen und thrombocyten. Helv Med Acta 12: 439–440.
11. Houdusse A, Kalabokis VN, Himmel D, Szent‐Gyorgyi AG, Cohen C. 1999. Atomic structure of scallop myosin subfragment S1 complexed with MgADP: a novel conformation of the myosin head. Cell 97: 459–470.
12. Houdusse A, Szent‐Gyorgyi AG, Cohen C. 2000. Three conformational states of scallop myosin S1. Proc Natl Acad Sci USA 97: 11238–11243.
13. Hu A, Wang F, Sellers JR. 2002. Mutations in human nonmuscle myosin IIA found in patients with May‐Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. J Biol Chem 277: 46512–46517.
14. Jacobelli J, Chmura SA, Buxton DB, Davis MM, Krummel MF. 2004. A single class II myosin modulates T cell motility and stopping, but not synapse formation. Nat Immunol 5: 531–538.
15. Kelley MJ, Jawien W, Ortel TL, Korczak JF. 2000. Mutation of MYH9, encoding non‐muscle myosin heavy chain A, in May‐Hegglin anomaly. Nat Genet 26: 106–108.
16. Kunishima S, Kojima T, Matsushita T, Tanaka T, Tsurusawa M, Furukawa G, Nakamura Y, Okamura T, Amemiya N, Nakayama T, Kamiya T, Saito H. 2001a. Mutations in the NMMHC‐A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May‐Hegglin anomaly/Sebastian syndrome). Blood 97: 1147–1149.
17. Kunishima S, Matsushita T, Kojima T, Amemiya N, Choi YM, Hosaka N, Inoue M, Jung Y, Mamiya S, Matsumoto K, Miyajima Y, Zhang G, Ruan C, Saito K, Song KS, Yoon HJ, Kamiya K, Saito H. 2001b. Identification of six novel MYH9 mutations and genotype–phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet 46: 722–729.
18. Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, Inoue C, Kamiya T, Saito H. 2003. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain‐A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest 83: 115–122.
19. Lalwani AK, Goldstein JA, Kelley MJ, Luxford W, Wilcox ER, Mhatre AN. 2000. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 67: 1121–1128.
20. Ma E, Wong CL, Shek TW, Hui SP. 2006. Hematologic and genetic characterization of an MYH9‐related disorder in a Chinese family. Haematologica 91: 1002–1003.
21. Matsushita T, Hayashi H, Kunishima S, Hayashi M, Ikejiri M, Takeshita K, Yuzawa Y, Adachi, T, Hirashima K, Sone M, Yamamoto K, Takagi A, Katsumi A, Kawai K, Nezu T, Takahashi M, Nakashima T, Naoe T, Kojima T, Saito H. 2004. Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice. Biochem Byophys Res Commun 325: 1163–1171.
22. May R. 1909. Leukozyteneinschlusse. Dtsch Arch Klin Med 96: 1–6.
23. Mhawech P, Saleem A. 2000. Inherited giant platelet disorders: classification and literature review. Am J Clin Pathol 113: 176–190.
24. Noris P, Spedini P, Belletti S, Magrini U, Balduini CL. 1998. Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May‐Hegglin anomaly): clinical and laboratory findings. Am J Med 104: 355–360.
25. Otsubo K, Kanegane H, Nomura K, Ogawa J, Miyawaki T, Kunishima S. 2006. Identification of a novel MYH9 mutation in a patient with May‐Hegglin anomaly. Pediatr Blood Cancer 47: 968–969.
26. Pecci A, Canobbio I, Balduini A, Stefanini L, Cisterna B, Marseglia C, Noris P, Savoia A, Balduini CL, Torti M. 2005. Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. Hum Mol Genet 14: 3169–3178.
27. Peterson LC, Rao KA, Crosson JT, White JG. 1985. Fechtner syndrome: a variant of Alport syndrome with leukocyte inclusions and macrothrombocytopenia. Blood 65: 397–406.
28. Pujol‐Moix N, Kelley MJ, Hernandez A, Muniz‐Diaz E, Espanol I. 2004. Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9‐related disorders. Haematologica 89: 330–337.
29. Robinson DN, Spudich JA. 2000. Toward a molecular understanding of cytokinesis. Trends Cell Biol 10: 228–237.
30. Rocca B, Laghi F, Zini G, Maggiano N, Landolfi R. 1993. Fechtner syndrome: report of a third family and literature review. Br J Haematol 85: 423–426.
31. Schleinitz N, Favier R, Mazodier K, Difeo A, Ebbo M, Veit V, Berda‐Haddad Y, Bernit E, Headier P, Kaplanski G, Camoin L, Bardet V, Harle JR. 2006. The MYH9 syndrome: report of a new case with a new mutation of the MYH9 gene. Rev Med Interne 27: 783–786.
32. Sellers JR. 2000. Myosins: a diverse superfamily. Biochim Biophys Acta 1496: 3–22.
33. Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA. 2000. Mutations in MYH9 result in the May‐Hegglin anomaly, and Fechtner and Sebastian syndromes. The May‐Hegglin/Fechtner Syndrome Consortium. Nat Genet 26: 103–105.
34. 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, Rodrigues Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A. 2003. 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. Medicine (Baltimore) 82: 203–215.
35. Wei Q, Adelstein RS. 2000. Conditional expression of a truncated fragment of nonmuscle myosin II‐A alters cell shape but not cytokinesis in HeLa cells. Mol Biol Cell 11: 3617–3627.