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A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.

ABSTRACT: A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. In early life, presumably congenital, hearing impairment occurred in the midfrequency range, amounting to about 40 dB at 1 kHz. Speech recognition was good with all phoneme recognition scores exceeding 90%. An intact horizontal vestibuloocular reflex was found in four tested patients. The missense mutation is located in the zona pellucida (ZP) domain of alpha-tectorin. Mutations affecting the ZP domain of alpha-tectorin are significantly associated with midfrequency hearing impairment. Substitutions affecting other amino acid residues than cysteines show a significant association with hearing impairment without progression. Indeed, in the present family progression seemed to be absent. In addition, the presently identified mutation affecting the ZP domain resulted in a substantially lesser degree of hearing impairment than was previously reported for DFNA8/12 traits with mutations affecting the ZP domain of alpha-tectorin.

SUBMITTER: Plantinga RF

PROVIDER: S-EPMC2504577 | biostudies-literature | 2006 Jun

REPOSITORIES: biostudies-literature

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A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.

Plantinga Rutger F RF de Brouwer Arjan P M AP Huygen Patrick L M PL Kunst Henricus P M HP Kremer Hannie H Cremers Cor W R J CW

Journal of the Association for Research in Otolaryngology : JARO 20060425 2

A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. In early life, presumably congenital, hearing impairment occurred in the midfrequency range, amounting to about 40 dB at 1 kHz. Speech recognition was good with all phoneme recognition scores exceeding 90%. An intact horizontal vestibuloocular reflex was found in four tested patients. The missense mutation is located in the zona pellucida (ZP) domain of alpha-tecto ...[more]

PMID: 16718611

Dataset Information

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.

Publications

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.

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