G2Cdb::Allele report

Mutation type

Altered genes (1)

Gene Symbol Species Description
G00002004 MYH9 Homo sapiens myosin, heavy chain 9, non-muscle

Diseases (1)

Disease Description Nervous effect
D00000134 MYH9-related disease N

Literature (1)

Pubmed - human_disease

  • 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.

    Kunishima S, Matsushita T, Shiratsuchi M, Ikuta T, Nishimura J, Hamaguchi M, Naoe T and Saito H

    Department of Hemostasis and Thrombosis, Clinical Research Center, Nagoya Medical Center, Nagoya, Japan. kunishis@nnh.hosp.go.jp

    MYH9 disorders are autosomal-dominant macrothrombocytopenias with leukocyte inclusions caused by mutations in the MYH9 gene, which encodes the non-muscle myosin heavy chain-A (NMMHCA). We report a patient with an MYH9 disorder who presented with macrothrombocytopenia without leukocyte inclusions and severe bilateral sensory deafness. Conventional May-Grunwald-Giemsa staining failed to detect granulocyte cytoplasmic inclusions, whereas immunofluorescence analysis clearly demonstrated abnormal neutrophil NMMHCA localization. Genetic analyses revealed a novel heterozygous 18 base deletion in MYH9, leading to a six-amino acid in-frame deletion (N76_S81del) in NMMHCA. These results further support the usefulness of immunofluorescence analysis in differential diagnosis of MYH9 disorders.

    European journal of haematology 2005;74;1;1-5

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EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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