RGD Reference Report - Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. - Rat Genome Database

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Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.

Authors: Lalwani, AK  Goldstein, JA  Kelley, MJ  Luxford, W  Castelein, CM  Mhatre, AN 
Citation: Lalwani AK, etal., Am J Hum Genet. 2000 Nov;67(5):1121-8. Epub 2000 Oct 9.
RGD ID: 11533925
Pubmed: PMID:11023810   (View Abstract at PubMed)
PMCID: PMC1288554   (View Article at PubMed Central)
DOI: DOI:10.1016/S0002-9297(07)62942-5   (Journal Full-text)

The authors had previously mapped a new locus-DFNA17, for nonsyndromic hereditary hearing impairment-to chromosome 22q12.2-q13. 3. DFNA17 spans a 17- to 23-cM region, and MYH9, a nonmuscle-myosin heavy-chain gene, is located within the linked region. Because of the importance of myosins in hearing, MYH9 was tested as a candidate gene for DFNA17. Expression of MYH9 in the rat cochlea was confirmed using reverse transcriptase-PCR and immunohistochemistry. MYH9 was immunolocalized in the organ of Corti, the subcentral region of the spiral ligament, and the Reissner membrane. Sequence analysis of MYH9 in a family with DFNA17 identified, at nucleotide 2114, a G-->A transposition that cosegregated with the inherited autosomal dominant hearing impairment. This missense mutation changes codon 705 from an invariant arginine (R) to histidine (H), R705H, within a highly conserved SH1 linker region. Previous studies have shown that modification of amino acid residues within the SH1 helix causes dysfunction of the ATPase activity of the motor domain in myosin II. Both the precise role of MYH9 in the cochlea and the mechanism by which the R705H mutation leads to the DFNA17 phenotype (progressive hearing impairment and cochleosaccular degeneration) remain to be elucidated.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Nonsyndromic Sensorineural Hearing Loss  IAGP 11533925DNA:mutation:cds:p.R705H(human)RGD 
Nonsyndromic Sensorineural Hearing Loss  ISOMYH9 (Homo sapiens)11533925; 11533925DNA:mutation:cds:p.R705H(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Myh9  (myosin, heavy chain 9)

Genes (Mus musculus)
Myh9  (myosin, heavy polypeptide 9, non-muscle)

Genes (Homo sapiens)
MYH9  (myosin heavy chain 9)


Additional Information