TY - JOUR
T1 - Audiological and vestibular features in affected subjects with USH3
T2 - A genotype/phenotype correlation
AU - Sadeghi, Mehdi
AU - Cohn, Edward S.
AU - Kimberling, William J.
AU - Tranebjœrg, Lisbeth
AU - Möller, Claes
N1 - Funding Information:
This work was supported by the Swedish Association of Hard of Hearing People (MS), Stiftelsen Tysta Skolan (MS), Gunnar Arnbrinks Stiftelse (MS), Oticon Foundation (LT), the NIDCD grants RO1 DC00677-07 (WJK), PO1 DC01813 (WJK), Foundation Fighting Blindness (WJK), and by the EU commission project grant ‘‘GENDEAF thematic Network’’ (CM).
PY - 2005/5
Y1 - 2005/5
N2 - The aims were to compare the genotype/phenotype relationship between USH3 mutations and the consequent hearing and vestibular phenotype; and to compare hearing loss (HL) progression between Usher syndrome types IB, IIA and USH3. Genetic, audiometric and vestibular examinations were performed in 28 subjects with USH3. Five different mutations in USH3 were identified. Severe HL was present from an early age (4 to 6 years) in 35% of subjects with USH3. Progression of HL begins in the first decade, and approximately 50% of subjects with USH3 become profoundly deaf by age 40. Various vestibular abnormalities were found in about half (10/22) of the tested subjects with USH3. Depending on the severity of HL, subjects with USH3 might be misdiagnosed as either Usher type IB or UA. The results from this study can be used as discriminatory features in differential diagnosis of this syndrome.
AB - The aims were to compare the genotype/phenotype relationship between USH3 mutations and the consequent hearing and vestibular phenotype; and to compare hearing loss (HL) progression between Usher syndrome types IB, IIA and USH3. Genetic, audiometric and vestibular examinations were performed in 28 subjects with USH3. Five different mutations in USH3 were identified. Severe HL was present from an early age (4 to 6 years) in 35% of subjects with USH3. Progression of HL begins in the first decade, and approximately 50% of subjects with USH3 become profoundly deaf by age 40. Various vestibular abnormalities were found in about half (10/22) of the tested subjects with USH3. Depending on the severity of HL, subjects with USH3 might be misdiagnosed as either Usher type IB or UA. The results from this study can be used as discriminatory features in differential diagnosis of this syndrome.
KW - Phenotype-genotype correlation
KW - Progressive hearing loss
KW - USH3
KW - Usher syndrome
KW - Usher syndrome type III
KW - Vestibular deficiency
UR - http://www.scopus.com/inward/record.url?scp=21344441012&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=21344441012&partnerID=8YFLogxK
U2 - 10.1080/14992020500060610
DO - 10.1080/14992020500060610
M3 - Article
C2 - 16028794
AN - SCOPUS:21344441012
SN - 1499-2027
VL - 44
SP - 307
EP - 316
JO - International Journal of Audiology
JF - International Journal of Audiology
IS - 5
ER -