| Title |
A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation
|
|---|---|
| Published in |
Journal of the Association for Research in Otolaryngology, April 2006
|
| DOI | 10.1007/s10162-006-0033-z |
| Pubmed ID | |
| Authors |
Rutger F. Plantinga, Arjan P. M. de Brouwer, Patrick L. M. Huygen, Henricus P. M. Kunst, Hannie Kremer, Cor W. R. J. Cremers |
| 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. |
Mendeley readers
The data shown below were compiled from readership statistics for 28 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 4% |
| Unknown | 27 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 21% |
| Student > Master | 4 | 14% |
| Researcher | 3 | 11% |
| Student > Postgraduate | 3 | 11% |
| Professor | 2 | 7% |
| Other | 7 | 25% |
| Unknown | 3 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 10 | 36% |
| Biochemistry, Genetics and Molecular Biology | 6 | 21% |
| Medicine and Dentistry | 6 | 21% |
| Engineering | 2 | 7% |
| Neuroscience | 1 | 4% |
| Other | 0 | 0% |
| Unknown | 3 | 11% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 14 July 2018.
All research outputs
#7,866,480
of 23,849,058 outputs
Outputs from Journal of the Association for Research in Otolaryngology
#119
of 429 outputs
Outputs of similar age
#23,877
of 67,286 outputs
Outputs of similar age from Journal of the Association for Research in Otolaryngology
#4
of 5 outputs
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So far Altmetric has tracked 429 research outputs from this source. They receive a mean Attention Score of 4.8. This one has gotten more attention than average, scoring higher than 52% of its peers.
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