TY - JOUR
T1 - Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss
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
N1 - Funding Information:
This work was supported by Telethon (grant E.813) (to P.G.); the Istituto Banco di Napoli (to P.G.); FIRB grant (to P.G.) and Cofin 2002 (to P.G.); the European Economic Community (QLG2–1999–00988) (to K.B.A.); and the Ministry of Science, Culture, and Sports (to K.B.A.). The authors thank E. Lapi (Florence) and M. Mattina (Catania) for their help in providing clinical information on two patients included in the study and Nir Ben-Tal and Meytal Cohen (Tel Aviv).
PY - 2003/6/1
Y1 - 2003/6/1
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=0037677643&partnerID=8YFLogxK
U2 - 10.1086/375654
DO - 10.1086/375654
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AN - SCOPUS:0037677643
SN - 0002-9297
VL - 72
SP - 1571
EP - 1577
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 6
ER -