Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation

F. Donaudy, L. Zheng, R. Ficarella, E. Ballana, M. Carella, S. Melchionda, Xavier P. Estivill, J. R. Bartles, Paolo Gasparini

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

Background: Espins are actin bundling proteins present in hair cell stereocilia. A recessive mutation in the espin gene (Espn) has been detected in the jerker mouse and causes deafness, vestibular dysfunction, and hair cell degeneration. More recently mutations in the human espin gene (ESPN) have been described in two families affected by autosomal recessive hearing loss and vestibular areflexia. Objective: To report the identification of four additional ESPN mutations (S719R, D744N, R774Q, and delK848) in patients affected by autosomal dominant hearing loss without vestibular involvement. Results: To determine whether the mutated ESPN alleles affected the biological activity of the corresponding espin proteins in vivo, their ability to target and elongate the parallel actin bundles of brush border microvilli was investigated in transfected LLC-PK1-CL4 epithelial cells. For three mutated alleles clear abnormalities in microvillar length or distribution were obtained. Conclusions: The results further strengthen the causative role of the espin gene in non-syndromic hearing loss and add new insights into espin structure and function.

Original languageEnglish
Pages (from-to)157-161
Number of pages5
JournalJournal of Medical Genetics
Volume43
Issue number2
DOIs
Publication statusPublished - Feb 2006
Externally publishedYes

Fingerprint

Hearing Loss
Organizations
Mutation
Genes
Microvilli
Actins
Vestibular Hair Cells
Alleles
Stereocilia
Aptitude
Deafness
Proteins
Epithelial Cells

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. / Donaudy, F.; Zheng, L.; Ficarella, R.; Ballana, E.; Carella, M.; Melchionda, S.; Estivill, Xavier P.; Bartles, J. R.; Gasparini, Paolo.

In: Journal of Medical Genetics, Vol. 43, No. 2, 02.2006, p. 157-161.

Research output: Contribution to journalArticle

Donaudy, F, Zheng, L, Ficarella, R, Ballana, E, Carella, M, Melchionda, S, Estivill, XP, Bartles, JR & Gasparini, P 2006, 'Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation', Journal of Medical Genetics, vol. 43, no. 2, pp. 157-161. https://doi.org/10.1136/jmg.2005.032086
Donaudy, F. ; Zheng, L. ; Ficarella, R. ; Ballana, E. ; Carella, M. ; Melchionda, S. ; Estivill, Xavier P. ; Bartles, J. R. ; Gasparini, Paolo. / Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. In: Journal of Medical Genetics. 2006 ; Vol. 43, No. 2. pp. 157-161.
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AU - Zheng, L.

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AU - Carella, M.

AU - Melchionda, S.

AU - Estivill, Xavier P.

AU - Bartles, J. R.

AU - Gasparini, Paolo

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N2 - Background: Espins are actin bundling proteins present in hair cell stereocilia. A recessive mutation in the espin gene (Espn) has been detected in the jerker mouse and causes deafness, vestibular dysfunction, and hair cell degeneration. More recently mutations in the human espin gene (ESPN) have been described in two families affected by autosomal recessive hearing loss and vestibular areflexia. Objective: To report the identification of four additional ESPN mutations (S719R, D744N, R774Q, and delK848) in patients affected by autosomal dominant hearing loss without vestibular involvement. Results: To determine whether the mutated ESPN alleles affected the biological activity of the corresponding espin proteins in vivo, their ability to target and elongate the parallel actin bundles of brush border microvilli was investigated in transfected LLC-PK1-CL4 epithelial cells. For three mutated alleles clear abnormalities in microvillar length or distribution were obtained. Conclusions: The results further strengthen the causative role of the espin gene in non-syndromic hearing loss and add new insights into espin structure and function.

AB - Background: Espins are actin bundling proteins present in hair cell stereocilia. A recessive mutation in the espin gene (Espn) has been detected in the jerker mouse and causes deafness, vestibular dysfunction, and hair cell degeneration. More recently mutations in the human espin gene (ESPN) have been described in two families affected by autosomal recessive hearing loss and vestibular areflexia. Objective: To report the identification of four additional ESPN mutations (S719R, D744N, R774Q, and delK848) in patients affected by autosomal dominant hearing loss without vestibular involvement. Results: To determine whether the mutated ESPN alleles affected the biological activity of the corresponding espin proteins in vivo, their ability to target and elongate the parallel actin bundles of brush border microvilli was investigated in transfected LLC-PK1-CL4 epithelial cells. For three mutated alleles clear abnormalities in microvillar length or distribution were obtained. Conclusions: The results further strengthen the causative role of the espin gene in non-syndromic hearing loss and add new insights into espin structure and function.

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