MYH9 related disease: A novel missense Ala95Asp mutation of the MYH9 gene

被引：8

作者：

de Rocco, Daniela ^{[1
]}

Heller, Paula G. ^{[2
]}

Girotto, Giorgia ^{[1
]}

Pastore, Annalisa ^{[3
]}

Glembotsky, Ana C. ^{[2
]}

Marta, Rosana F. ^{[2
]}

Bozzi, Valeria ^{[4
]}

Pecci, Alessandro ^{[4
]}

Molinas, Felisa C. ^{[2
]}

Savoia, Anna ^{[1
]}

机构：

[1] Univ Trieste, IRCCS Burlo Garofolo, Dept Reprod & Dev Sci, Inst Maternal & Child Hlth, I-34137 Trieste, Italy

[2] Univ Buenos Aires, Inst Invest Med IDIM, Buenos Aires, DF, Argentina

[3] Natl Inst Med Res, London NW7 1AA, England

[4] Univ Pavia, IRCCS Policlin San Matteo Fdn, Dept Internal Med, I-27100 Pavia, Italy

来源：

PLATELETS | 2009年 / 20卷 / 08期

关键词：

MYH9-related disease; macrothrombocytopenia; neutrophil aggregate; MYH9; gene; mutational screening; MYOSIN HEAVY-CHAIN; MYH9-RELATED DISEASE; SEBASTIAN-SYNDROME; EPSTEIN-SYNDROME; FECHTNER; IIA; EXPRESSION; DISORDERS; POSITION;

D O I：

10.3109/09537100903349620

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. Patients present with congenital macrothrombocytopenia and inclusion bodies in neutrophils and might develop sensorineural deafness, presenile cataract, and/or progressive nephritis leading to end-stage renal failure. In a family with eight individuals suffering from macrothrombocytopenia and hearing impairment we identified a novel c.Ala95Asp mutation. Affecting the motor domain of the protein, the mutation is likely to be associated with a severe phenotype. Therefore, this family should be carefully monitored to follow-up the renal status even though the affected members do not seem to be at risk of early kidney disease.

引用

页码：598 / 602

页数：5

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