Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)

Francesca Donaudy, Rik Snoeckx, Markus Pfister, Hans Peter Zenner, Nikolaus Blin, Mariateresa Di Stazio, Antonella Ferrara, Carmen Lanzara, Romina Ficarella, Frank Declau, Carsten M. Pusch, Peter Nürnberg, Salvatore Melchionda, Leopoldo Zelante, Ester Ballana, Xavier P. Estivill, Guy Van Camp, Paolo Gasparini, Anna Savoia

Research output: Contribution to journalArticle

87 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)770-776
Number of pages7
JournalAmerican Journal of Human Genetics
Volume74
Issue number4
DOIs
Publication statusPublished - Apr 2004
Externally publishedYes

Fingerprint

Myosin Heavy Chains
Cochlea
Myosins
Hearing Loss
Ion Channel Gating
Genes
Myosin Type II
Belgium
Missense Mutation
Pedigree
Cytoskeleton
Organelles
Spain
Italy
Hearing
Alleles
Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4). / Donaudy, Francesca; Snoeckx, Rik; Pfister, Markus; Zenner, Hans Peter; Blin, Nikolaus; Di Stazio, Mariateresa; Ferrara, Antonella; Lanzara, Carmen; Ficarella, Romina; Declau, Frank; Pusch, Carsten M.; Nürnberg, Peter; Melchionda, Salvatore; Zelante, Leopoldo; Ballana, Ester; Estivill, Xavier P.; Van Camp, Guy; Gasparini, Paolo; Savoia, Anna.

In: American Journal of Human Genetics, Vol. 74, No. 4, 04.2004, p. 770-776.

Research output: Contribution to journalArticle

Donaudy, F, Snoeckx, R, Pfister, M, Zenner, HP, Blin, N, Di Stazio, M, Ferrara, A, Lanzara, C, Ficarella, R, Declau, F, Pusch, CM, Nürnberg, P, Melchionda, S, Zelante, L, Ballana, E, Estivill, XP, Van Camp, G, Gasparini, P & Savoia, A 2004, 'Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)', American Journal of Human Genetics, vol. 74, no. 4, pp. 770-776. https://doi.org/10.1086/383285
Donaudy, Francesca ; Snoeckx, Rik ; Pfister, Markus ; Zenner, Hans Peter ; Blin, Nikolaus ; Di Stazio, Mariateresa ; Ferrara, Antonella ; Lanzara, Carmen ; Ficarella, Romina ; Declau, Frank ; Pusch, Carsten M. ; Nürnberg, Peter ; Melchionda, Salvatore ; Zelante, Leopoldo ; Ballana, Ester ; Estivill, Xavier P. ; Van Camp, Guy ; Gasparini, Paolo ; Savoia, Anna. / Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4). In: American Journal of Human Genetics. 2004 ; Vol. 74, No. 4. pp. 770-776.
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