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Am J Hum Genet. 2003 Jun;72(6):1571-7. Epub 2003 May 6.

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

Author information

1
Telethon Institute of Genetics and Medicine, Naples, Italy.

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.

PMID:
12736868
PMCID:
PMC1180318
DOI:
10.1086/375654
[Indexed for MEDLINE]
Free PMC Article

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