Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nonmuscle myosin heavy chain 9

The gene encodes a protein essential to the cytoskeleton. Mutations cause May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes, and deafness without any further symptoms (DFNA17).

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

MYH9 related disorders
Epstein syndrome
MYH9
MYH9

References:

1.

Lalwani AK et al. (2000) Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.

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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.

Basile C et al. () Hereditary nephritis with macrothrombocytopenia: phenotypic variety and the genotypic defect.

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4.

Balduini CL et al. (2002) Inherited thrombocytopenias: from genes to therapy.

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Update: Sept. 26, 2018