Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes

The May-Hegglin/Fechtner Syndrome Consortium

doi:10.1038/79063

journal article Sep 01, 2000

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes

The May-Hegglin/Fechtner Syndrome Consortium

Nature Genetics Vol. 26 No. 1 pp. 103-105 · Springer Science and Business Media LLC

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References

30

[1]

Mhawech, P. & Saleem, A. Inherited giant platelet disorders. Classification and literature review. Am. J. Clin. Pathol. 113, 176–190 (2000). 10.1309/fc4h-lm5v-vcw8-dnju

[2]

Hegglin, R. Gleichzeitige konstitutionelle Veranderungen an Neurtophilen und Thrombocyten . Helv. Med. Acta 12, 439– 440 (1945).

[3]

May, R. Leukocyteneinschlusse . Dtsch. Arch. Klin. Med. 96, 1– 6 (1909).

[4]

Peterson, L.C., Rao, K.V., Crosson, J.T. & White, J.G. Fechtner syndrome?a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia . Blood 65, 397–406 (1985). 10.1182/blood.v65.2.397.397

[5]

Greinacher, A., Nieuwenhuis, H.K. & White, J.G. Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. Blut 61, 282–288 (1990). 10.1007/bf01732878

[6]

Martignetti, J.A. et al. The May-Hegglin anomaly (MHA) gene localizes to a <1Mb region on chromosome 22q12.3?13.1. Am. J. Hum. Genet. 66, 1449–1454 (2000). 10.1086/302873

[7]

Cusano, R.,. et al. Localisation of the gene responsible for Fechtner syndrome in a region <600 kb on 22q11-q13. Eur. J. Hum. Genet. (in press). 10.1038/sj.ejhg.5200533

[8]

Saez, C.G., Myers, J.C., Shows, T.B. & Leinwand, L.A. Human nonmuscle myosin heavy chain mRNA: generation of diversity through alternative polyadenylation . Proc. Natl Acad. Sci. USA 87, 1164– 1168 (1990). 10.1073/pnas.87.3.1164

[9]

Simons, M. et al. Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes. Circ. Res. 69, 530–539 (1991). 10.1161/01.res.69.2.530

[10]

Toothaker, L.E. et al. Cellular myosin heavy chain in human leukocytes: isolation of 5′ cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation. Blood 78, 1826–1833 (1991). 10.1182/blood.v78.7.1826.1826

[11]

Kunishima, S. et al. Mapping of a gene for May-Hegglin anomaly to chromosome 22q . Hum. Genet. 105, 379– 383 (1999). 10.1007/s004390051119

[12]

Toren, A. et al. Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11?13 . Am. J. Hum. Genet. 65, 1711– 1717 (1999). 10.1086/302654

[13]

The DNA sequence of human chromosome 22

I. Dunham, A. R. Hunt, J. E. Collins et al.

Nature 1999 10.1038/990031

[14]

Kawamoto, S. & Adelstein, R.S. Chicken nonmuscle myosin heavy chains: differential expression of two mRNAs and evidence for two different polypeptides. J. Cell Biol. 112, 915– 924 (1991). 10.1083/jcb.112.5.915

[15]

Lucas, R.C. et al. The isolation and characterization of a cytoskeleton and a contractile apparatus from platelets. in Protides of Biological Fluids (ed. Peeters, H.) 465–470 (Pergamon, New York, 1975).

[16]

Noris, P., Spedini, P., Belletti, S., Magrini, U. & Balduini, C.L. Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): Clinical and laboratory findings. Am. J. Med. 104, 355– 360 (1998). 10.1016/s0002-9343(98)00062-x

[17]

Bizzaro, N. L'anomalia di May-Hegglin: una rara causa di piastrinopenia congenita. Descrizione della malattia e di un vasto gruppo familiare del Veneto orientale. Med. Lab. 5, 165–171 ( 1997).

[18]

Urato, A.C. & Repke, J.T. May-Hegglin anomaly: a case of vaginal delivery when both mother and fetus are affected. Am. J. Obstet. Gynecol. 179, 260–261 ( 1998). 10.1016/s0002-9378(98)70283-2

[19]

Moxey-Mims, M.M. et al. End-stage renal disease in two pediatric patients with Fechtner syndrome. Pediatr. Nephrol. 13, 782– 786 (1999). 10.1007/s004670050700

[20]

Sellers, J.R. Myosins: a diverse superfamily. Biochim. Biophys. Acta 1496, 3–22 (2000). 10.1016/s0167-4889(00)00005-7

[21]

Harrington, W.F. & Rodgers, M.E. Myosin. Annu. Rev. Biochem. 53, 35–73 (1984). 10.1146/annurev.bi.53.070184.000343

[22]

Dominguez, R., Freyzon, Y., Trybus, K.M. & Cohen, C. Crystal structure of a vertebrate smooth muscle myosin motor domain and its complex with the essential light chain: visualization of the pre-power stroke state. Cell 94, 559–571 (1998). 10.1016/s0092-8674(00)81598-6

[23]

Hodge, T.P., Cross, R. & Kendrick-Jones, J. Role of the COOH-terminal nonhelical tailpiece in the assembly of a vertebrate nonmuscle myosin rod. J. Cell Biol. 118, 1085–1095 (1992). 10.1083/jcb.118.5.1085

[24]

Citi, S. & Kendrick-Jones, J. Brush border myosin filament assembly and interaction with actin investigated with monoclonal antibodies . J. Muscle Res. Cell Motil. 9, 306– 319 (1988). 10.1007/bf01773874

[25]

Murakami, N., Chauhan, V.P. & Elzinga, M. Two nonmuscle myosin II heavy chain isoforms expressed in rabbit brains: filament forming properties, the effects of phosphorylation by protein kinase C and casein kinase II, and location of the phosphorylation sites. Biochemistry 37, 1989– 2003 (1998). 10.1021/bi971959a

[26]

The Fourier transform of a coiled-coil

F. H. C. Crick

Acta Crystallographica 1953 10.1107/s0365110x53001952

[27]

Willems, P.J. Genetic causes of hearing loss. N. Engl. J. Med. 342 , 1101–1109 (2000). 10.1056/nejm200004133421506

[28]

Lalwani, A.K. et al. A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration . Am. J. Hum. Genet. 64, 318– 323 (1999). 10.1086/302216

[29]

Epstein, C.J. et al. Hereditary macrothromboctopathia, nephritis and deafness. Am. J. Med. 52, 299–310 (1972). 10.1016/0002-9343(72)90017-4

[30]

Kelley, M.J., Jawien, W., Ortel, T.L. & Korczak, J.F. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nature Genet. 26, 106–108 (2000). 10.1038/79069

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Published: Sep 01, 2000
Vol/Issue: 26(1)
Pages: 103-105
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The May-Hegglin/Fechtner Syndrome Consortium

Cite This Article

The May-Hegglin/Fechtner Syndrome Consortium (2000). Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nature Genetics, 26(1), 103-105. https://doi.org/10.1038/79063

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes

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