Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.

descriptionPublicationkeyboard_double_arrow_right Article 01 Jan 2009 Netherlands

Authors: de Heer, A.R; Pauw, R.J.; Huygen, P.L.M.; Collin, R.W.J.; Collin, R.W.J.; Kremer, J.M.J.; Cremers, C.W.R.J.;

handle: https://repository.ubn.ru.nl/handle/2066/80694

Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.

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Abstract

A novel TECTA mutation (c.5331G>A) was identified affecting alpha-tectorin just N-terminally of the zona pellucida domain in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. The present mutation is clearly associated with a flat-threshold type of hearing impairment. Intriguingly, our results demonstrated that the present TECTA mutation had a significant protective effect against presbyacusis. Substantial protection against presbyacusis is a novel finding in a family with autosomal dominant hearing impairment.

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Netherlands

7 Research products, page 1 of 1

[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment]
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Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer
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Identification of a Novel TECTA Mutation in a Chinese DFNA8/12 Family with Prelingual Progressive Sensorineural Hearing Impairment
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[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment].
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DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss
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A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation
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Despite a lack of otoacoustic emission, word recognition is not seriously influenced in a TECTA DFNA8/12 family
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Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.

Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.

7 Research products, page 1 of 1

[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment]

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

Identification of a Novel TECTA Mutation in a Chinese DFNA8/12 Family with Prelingual Progressive Sensorineural Hearing Impairment

[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment].

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

Despite a lack of otoacoustic emission, word recognition is not seriously influenced in a TECTA DFNA8/12 family