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Screening of Connexin 26 in Nonsyndromic Hearing Loss

Overview of attention for article published in International Archives of Otorhinolaryngology, April 2014
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Title
Screening of Connexin 26 in Nonsyndromic Hearing Loss
Published in
International Archives of Otorhinolaryngology, April 2014
DOI 10.1055/s-0034-1373783
Pubmed ID
Authors

Danielle Moreira, Daniela Silva, Priscila Lopez, Jair Mantovani

Abstract

Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11-22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important. The viability and benefits of screening for mutations in the connexin 26 gene are now beginning to change the diagnostic evaluation and identification of the etiology of hearing loss. Objective To investigate the occurrence of the 35delG mutation in patients with nonsyndromic sensorineural hearing loss and their first degree relatives. Methods This transversal study included 72 patients from the local hospital. The patients were divided into three groups: group A, sensorineural hearing loss (n = 58); group B, first-degree relatives of group A with sensorineural hearing loss (n = 09); and group C, first-degree relatives of patients from group A without hearing loss (n = 05). All patients had audiological evaluation and genetic testing of the 35delG mutation. Results The 35delG mutation was found in four heterozygous mutations (three of them found in the same family). The other heterozygous mutation was found in a female patient with bilateral, moderate, prelingual, sensorineural hearing loss. A single homozygous mutation was found in a male patient, with severe sensorineural hearing loss in his right ear and profound hearing loss in the left ear. Conclusions The 35delG mutation was found in 7% of the cases. The test is easy to perform and inexpensive, but it is necessary to investigate other genes related to hearing loss.

Mendeley readers

The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 17 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 18%
Researcher 3 18%
Student > Doctoral Student 2 12%
Student > Bachelor 2 12%
Professor > Associate Professor 2 12%
Other 3 18%
Unknown 2 12%
Readers by discipline Count As %
Medicine and Dentistry 7 41%
Biochemistry, Genetics and Molecular Biology 2 12%
Nursing and Health Professions 2 12%
Social Sciences 1 6%
Agricultural and Biological Sciences 1 6%
Other 2 12%
Unknown 2 12%

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 22 April 2015.
All research outputs
#19,105,601
of 21,468,133 outputs
Outputs from International Archives of Otorhinolaryngology
#254
of 254 outputs
Outputs of similar age
#204,429
of 243,864 outputs
Outputs of similar age from International Archives of Otorhinolaryngology
#14
of 24 outputs
Altmetric has tracked 21,468,133 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 254 research outputs from this source. They receive a mean Attention Score of 0.7. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 24 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.