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| Item Type: | Article |
|---|---|
| Title: | Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4) |
| Creators Name: | Donaudy, F., Snoeckx, R., Pfister, M., Zenner, H.P., Blin, N., Di Stazio, M., Ferrara, A., Lanzara, C., Ficarella, R., Declau, F., Pusch, C.M., Nuernberg, P., Melchionda, S., Zelante, L., Ballana, E., Estivill, X., Van Camp, G., Gasparini, P. and Savoia, A. |
| Abstract: | Myosins have been implicated in various motile processes, including organelle translocation, ion-channel gating, and cytoskeleton reorganization. Different members of the myosin superfamily are responsible for syndromic and nonsyndromic hearing impairment in both humans and mice. MYH14 encodes one of the heavy chains of the class II nonmuscle myosins, and it is localized within the autosomal dominant hearing impairment (DFNA4) critical region. After demonstrating that MYH14 is highly expressed in mouse cochlea, we performed a mutational screening in a large series of 300 hearing-impaired patients from Italy, Spain, and Belgium and in a German kindred linked to DFNA4. This study allowed us to identify a nonsense and two missense mutations in large pedigrees, linked to DFNA4, as well as a de novo allele in a sporadic case. Absence of these mutations in healthy individuals was tested in 200 control individuals. These findings clearly demonstrate the role of MYH14 in causing autosomal dominant hearing loss and further confirm the crucial role of the myosin superfamily in auditive functions. |
| Keywords: | Amino Acid Sequence, Carrier Proteins, Cochlea, Deafness, Dominant Genes, Immunohistochemistry, Molecular Sequence Data, Mutation, Myosin Heavy Chains, Myosin Type II, Pedigree, Messenger RNA, Animals, Mice |
| Source: | American Journal of Human Genetics |
| ISSN: | 0002-9297 |
| Publisher: | University of Chicago Press |
| Volume: | 74 |
| Number: | 4 |
| Page Range: | 770-776 |
| Date: | April 2004 |
| Official Publication: | https://doi.org/10.1086/383285 |
| PubMed: | View item in PubMed |
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