Association of Clinical Features With Mutation of TECTA in a Family With Autosomal Dominant Hearing Loss
| Autor: | Tomoyuki Hoshino, Daisuke Harada, Tamotsu Takeshita, Mitsuyoshi Nagura, Shin-ichi Usami, Satoshi Iwasaki |
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| Rok vydání: | 2002 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Hearing loss DNA Mutational Analysis Mutation Missense Deafness Audiology Biology GPI-Linked Proteins TECTA Gene Exon Genotype otorhinolaryngologic diseases medicine Humans Missense mutation TECTA Child Gene Genes Dominant Chromosome Aberrations Genetics Extracellular Matrix Proteins Membrane Glycoproteins General Medicine Pedigree Otorhinolaryngology Mutation (genetic algorithm) Audiometry Pure-Tone Female Surgery medicine.symptom |
| Zdroj: | Archives of Otolaryngology–Head & Neck Surgery. 128:913 |
| ISSN: | 0886-4470 |
| DOI: | 10.1001/archotol.128.8.913 |
| Popis: | Background: The TECTA gene, which encodes -tectorin, has recently been cloned.-Tectorin is a major component of the noncollagenous matrix of the tectorial membrane. Nonsyndromic hearing impairment caused by TECTA mutations has been reported in Austrian, Belgian, Swedish, French, and Lebanese families. The phenotypes and genotypes were different among these families. Materials and Methods: Our study family displayed autosomal dominant hearing impairment through 3 generations. We sequenced the coding exons of the TECTA gene in 4 affected individuals, and we report the clinical features in a Japanese family with nonsyndromic hearing impairment and a mutation in the TECTA gene. Results: The 5-frequency average of 250, 500, 1000, 2000, and 4000 Hz in 4 affected individuals was 42.2±3.7 (mean±SD) dB in the right ear and 42.3±4.5 dB in the left ear. The mean age at onset of hearing impairment was 5 years. The progression of hearing impairment was not confirmed for a 15-year period, from the age of 6 to 21 years, in 1 affected member. The 4 patients had a G→ A missense mutation at nucleotide 6063 in exon 20. This mutation replaces arginine at residue 2021 with histidine (R2021H). Conclusions: All 4 affected members showed symmetrical and stable bilateral mild to moderate hearing impairment in the midfrequencies. The mean threshold level of 2000 Hz was the worst among the 5 frequencies. All the affected members had normal vestibular function. The mutation in the TECTA gene, localized in the zona pellucida domain, was detected in all 4 affected individuals. The localization of the mutation in the different modules of the protein may have caused the different clinical features. Arch Otolaryngol Head Neck Surg. 2002;128:913-917 |
| Databáze: | OpenAIRE |
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