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A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

Overview of attention for article published in Human Mutation, March 2008
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • One of the highest-scoring outputs from this source (#2 of 2,989)
  • High Attention Score compared to outputs of the same age (99th percentile)
  • High Attention Score compared to outputs of the same age and source (99th percentile)

Mentioned by

news
31 news outlets
patent
3 patents
wikipedia
4 Wikipedia pages

Citations

dimensions_citation
148 Dimensions

Readers on

mendeley
103 Mendeley
citeulike
1 CiteULike
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Title
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy
Published in
Human Mutation, March 2008
DOI 10.1002/humu.20708
Pubmed ID
Authors

Montserrat Rodríguez‐Ballesteros, Raúl Reynoso, Margarita Olarte, Manuela Villamar, Constantino Morera, Rosamaria Santarelli, Edoardo Arslan, Carme Medá, Carlos Curet, Christiane Völter, Manuel Sainz‐Quevedo, Pierangela Castorina, Umberto Ambrosetti, Stefano Berrettini, Klemens Frei, Socorro Tedín, Janine Smith, M. Cruz Tapia, Laura Cavallé, Nancy Gelvez, Paola Primignani, Elena Gómez‐Rosas, Mirta Martín, Miguel A. Moreno‐Pelayo, Martalucía Tamayo, José Moreno‐Barral, Felipe Moreno, Ignacio del Castillo

Abstract

Autosomal recessive nonsyndromic hearing impairment (NSHI) is a heterogeneous condition, for which 53 genetic loci have been reported, and 29 genes have been identified to date. One of these, OTOF, encodes otoferlin, a membrane-anchored calcium-binding protein that plays a role in the exocytosis of synaptic vesicles at the auditory inner hair cell ribbon synapse. We have investigated the prevalence and spectrum of deafness-causing mutations in the OTOF gene. Cohorts of 708 Spanish, 83 Colombian, and 30 Argentinean unrelated subjects with autosomal recessive NSHI were screened for the common p.Gln829X mutation. In compound heterozygotes, the second mutant allele was identified by DNA sequencing. In total, 23 Spanish, two Colombian and two Argentinean subjects were shown to carry two mutant alleles of OTOF. Of these, one Colombian and 13 Spanish subjects presented with auditory neuropathy. In addition, a cohort of 20 unrelated subjects with a diagnosis of auditory neuropathy, from several countries, was screened for mutations in OTOF by DNA sequencing. A total of 11 of these subjects were shown to carry two mutant alleles of OTOF. In total, 18 pathogenic and four neutral novel alleles of the OTOF gene were identified. Haplotype analysis for markers close to OTOF suggests a common founder for the novel c.2905_2923delinsCTCCGAGCGCA mutation, frequently found in Argentina. Our results confirm that mutation of the OTOF gene correlates with a phenotype of prelingual, profound NSHI, and indicate that OTOF mutations are a major cause of inherited auditory neuropathy.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 103 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 4 4%
Greece 1 <1%
Germany 1 <1%
Unknown 97 94%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 15 15%
Researcher 15 15%
Student > Master 14 14%
Student > Postgraduate 10 10%
Student > Bachelor 8 8%
Other 24 23%
Unknown 17 17%
Readers by discipline Count As %
Medicine and Dentistry 25 24%
Agricultural and Biological Sciences 24 23%
Biochemistry, Genetics and Molecular Biology 15 15%
Neuroscience 5 5%
Nursing and Health Professions 2 2%
Other 9 9%
Unknown 23 22%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 213. 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 March 2024.
All research outputs
#182,467
of 25,481,734 outputs
Outputs from Human Mutation
#2
of 2,989 outputs
Outputs of similar age
#293
of 96,213 outputs
Outputs of similar age from Human Mutation
#1
of 26 outputs
Altmetric has tracked 25,481,734 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,989 research outputs from this source. They receive a mean Attention Score of 4.8. This one has done particularly well, scoring higher than 99% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 96,213 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 99% of its contemporaries.
We're also able to compare this research output to 26 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 99% of its contemporaries.