Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Sebastian-Syndrom

Das Sebastian-Syndrom gehört zu den MYH9-assoziierten Erkrankungen. Es ist eine phänotypische Variante mit Makrothrombozytämie und Leukozyteneinschlüssen. Die Vererbung ist autosomal dominant.

Gliederung

MYH9 assoziierte Erkrankungen
Epstein-Syndrom
Fechtner-Syndrom
MYH9
Sebastian-Syndrom
MYH9

Referenzen:

1.

Kunishima S et al. (1997) Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.

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2.

Heath KE et al. (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.

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3.

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4.

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6.

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7.

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8.

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9.

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11.

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12.

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13.

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14.

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16.

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17.

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18.

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19.

Epstein CJ et al. (1972) Hereditary macrothrombocytopathia, nephritis and deafness.

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21.

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22.

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23.

Toren A et al. (1999) Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13.

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24.

Kunishima S et al. (1999) Mapping of a gene for May-Hegglin anomaly to chromosome 22q.

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25.

Martignetti JA et al. (2000) The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.

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26.

Kelley MJ et al. (2000) Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13.

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27.

Seri M et al. (2000) Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

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29.

Toren A et al. (2000) Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13.

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30.

Mhatre AN et al. (2003) Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.

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31.

Seri M et al. (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.

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32.

OSKI FA et al. (1962) Leukocytic inclusionsDohle bodiesassociated with platelet abnormality (the May-Hegglin anomaly). Report of a family and review of the literature.

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33.

JORDAN SW et al. (1965) ULTRASTRUCTURAL STUDIES OF THE MAY-HEGGLIN ANOMALY.

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34.

Kunishima S et al. (2005) Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness.

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35.

Utsch B et al. (2006) Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

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36.

Pecci A et al. (2008) Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

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37.

Savoia A et al. (2010) Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

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38.

None (1945) [Not Available].

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39.

Balduini CL et al. (2011) Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.

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40.

OMIM.ORG article

Omim 155100 [^]
Update: 10. Mai 2019