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A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness

Overview of attention for article published in Journal of Translational Medicine, May 2015
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Title
A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness
Published in
Journal of Translational Medicine, May 2015
DOI 10.1186/s12967-015-0483-3
Pubmed ID
Authors

Aiping Huang, Yongyi Yuan, Yanping Liu, Qingwen Zhu, Pu Dai

Abstract

Hereditary hearing loss is a heterogeneous class of disorders showing various patterns of inheritance and involving many genes. Mutations in the EYA4 gene are responsible for postlingual, progressive, autosomal dominant hearing loss at the DFNA10 locus. We report on a Chinese family with sensorineural, progressive hearing loss. Next-generation sequencing (NGS) was conducted using DNA samples from this family. A candidate mutation was confirmed by Sanger sequencing. A detailed genotype and phenotype analysis of EYA4 in deafness is provided. NGS revealed an insertion mutation c.544_545insA in exon 8 of EYA4 in all affected family members. This insertion created a frameshift resulting in a stop codon at position 221 (p.F221X). The p.F221X frameshift mutation cosegregated with hearing loss in the family. Audiograms of affected family members are flat or sloping, differing from the characteristic "cookie bite" audiogram and the mutation is localized in a different region of the eyaHR in EYA4. We identified a novel frameshift mutation in the EYA4 gene. Our results enrich the mutational spectrum of EYA4 and highlight the complexity of the DFNA10 genotypes and phenotypes. Using NGS techniques to establish a database of common mutations in patients with hearing loss and further data accumulation will contribute to the early diagnosis and development of fundamental therapies for hereditary hearing loss.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 10 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 40%
Student > Bachelor 1 10%
Student > Doctoral Student 1 10%
Student > Master 1 10%
Student > Postgraduate 1 10%
Other 0 0%
Unknown 2 20%
Readers by discipline Count As %
Medicine and Dentistry 3 30%
Biochemistry, Genetics and Molecular Biology 2 20%
Psychology 1 10%
Engineering 1 10%
Unknown 3 30%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 12 May 2015.
All research outputs
#15,331,767
of 22,803,211 outputs
Outputs from Journal of Translational Medicine
#2,233
of 3,991 outputs
Outputs of similar age
#156,513
of 264,485 outputs
Outputs of similar age from Journal of Translational Medicine
#62
of 93 outputs
Altmetric has tracked 22,803,211 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,991 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 10.5. This one is in the 31st percentile – i.e., 31% of its peers scored the same or lower than it.
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 264,485 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 32nd percentile – i.e., 32% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 93 others from the same source and published within six weeks on either side of this one. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.