Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss

Francesca Donaudy; Antonella Ferrara; Laura Esposito; Ronna Hertzano; Orit Ben-David; Rachel F. Bell; Salvatore Melchionda; Leopoldo Zelante; Karen B. Avraham; Paolo Gasparini

doi:10.1086/375654

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss

Francesca Donaudy, Antonella Ferrara, Laura Esposito, Ronna Hertzano, Orit Ben-David, Rachel F. Bell, Salvatore Melchionda, Leopoldo Zelante, Karen B. Avraham, Paolo Gasparini

Research output: Contribution to journal › Article › peer-review

Abstract

Myosin I isozymes have been implicated in various motile processes, including organelle translocation, ion-channel gating, and cytoskeleton reorganization. Unconventional myosins were among the first family of proteins found to be associated with hearing loss in both humans and mice. Here, we report the identification of a nonsense mutation, of a trinucleotide insertion leading to an addition of an amino acid, and of six missense mutations in MYO1A cDNA sequence in a group of hearing-impaired patients from Italy. MYO1A, which is located within the DFNA48 locus, is the first myosin I family member found to be involved in causing deafness and may be a major contributor to autosomal dominant-hearing loss.

Original language	English
Pages (from-to)	1571-1577
Number of pages	7
Journal	American Journal of Human Genetics
Volume	72
Issue number	6
DOIs	https://doi.org/10.1086/375654
Publication status	Published - Jun 1 2003

ASJC Scopus subject areas

Genetics

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abstract = "Myosin I isozymes have been implicated in various motile processes, including organelle translocation, ion-channel gating, and cytoskeleton reorganization. Unconventional myosins were among the first family of proteins found to be associated with hearing loss in both humans and mice. Here, we report the identification of a nonsense mutation, of a trinucleotide insertion leading to an addition of an amino acid, and of six missense mutations in MYO1A cDNA sequence in a group of hearing-impaired patients from Italy. MYO1A, which is located within the DFNA48 locus, is the first myosin I family member found to be involved in causing deafness and may be a major contributor to autosomal dominant-hearing loss.",

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AU - Donaudy, Francesca

AU - Ferrara, Antonella

AU - Esposito, Laura

AU - Hertzano, Ronna

AU - Ben-David, Orit

AU - Bell, Rachel F.

AU - Melchionda, Salvatore

AU - Zelante, Leopoldo

AU - Avraham, Karen B.

AU - Gasparini, Paolo

PY - 2003/6/1

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AB - Myosin I isozymes have been implicated in various motile processes, including organelle translocation, ion-channel gating, and cytoskeleton reorganization. Unconventional myosins were among the first family of proteins found to be associated with hearing loss in both humans and mice. Here, we report the identification of a nonsense mutation, of a trinucleotide insertion leading to an addition of an amino acid, and of six missense mutations in MYO1A cDNA sequence in a group of hearing-impaired patients from Italy. MYO1A, which is located within the DFNA48 locus, is the first myosin I family member found to be involved in causing deafness and may be a major contributor to autosomal dominant-hearing loss.

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Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss

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