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Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology

Overview of attention for article published in BMC Medical Genomics, September 2015
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Title
Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology
Published in
BMC Medical Genomics, September 2015
DOI 10.1186/s12881-015-0232-8
Pubmed ID
Authors

Maria Carolina CCosta CMelo Svidnicki, Sueli Matilde Silva-Costa, Priscila Zonzini Ramos, Nathalia Zocal Pereira dos Santos, Fábio Tadeu Arrojo Martins, Arthur Menino Castilho, Edi Lúcia Sartorato

Abstract

Recent advances in molecular genetics have enabled to determine the genetic causes of non-syndromic hearing loss, and more than 100 genes have been related to the phenotype. Due to this extraordinary genetic heterogeneity, a large percentage of patients remain without any molecular diagnosis. This condition imply the need for new methodological strategies in order to detect a greater number of mutations in multiple genes. In this work, we optimized and tested a panel of 86 mutations in 17 different genes screened using a high-throughput genotyping technology to determine the molecular etiology of hearing loss. The technology used in this work was the MassARRAY iPLEX® platform. This technology uses silicon chips and DNA amplification products for accurate genotyping by mass spectrometry of previous reported mutations. The generated results were validated using conventional techniques, as direct sequencing, multiplex PCR and RFLP-PCR. An initial genotyping of control subjects, showed failures in 20 % of the selected alterations. To optimize these results, the failed tests were re-designed and new primers were synthesized. Then, the specificity and sensitivity of the panel demonstrated values above 97 %. Additionally, a group of 180 individuals with NSHL without a molecular diagnosis was screened to test the diagnostic value of our panel, and mutations were identified in 30 % of the cases. In 20 % of the individuals, it was possible to explain the etiology of the HL. Mutations in GJB2 gene were the most prevalent, followed by other mutations in in SLC26A4, CDH23, MT-RNR1, MYO15A, and OTOF genes. The MassARRAY technology has the potential for high-throughput identification of genetic variations. However, we demonstrated that optimization is required to increase the genotyping success and accuracy. The developed panel proved to be efficient and cost-effective, being suitable for applications involving the molecular diagnosis of hearing loss.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 41 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 41 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 8 20%
Student > Bachelor 6 15%
Researcher 5 12%
Student > Ph. D. Student 3 7%
Student > Doctoral Student 2 5%
Other 10 24%
Unknown 7 17%
Readers by discipline Count As %
Medicine and Dentistry 10 24%
Agricultural and Biological Sciences 9 22%
Biochemistry, Genetics and Molecular Biology 8 20%
Unspecified 2 5%
Pharmacology, Toxicology and Pharmaceutical Science 1 2%
Other 2 5%
Unknown 9 22%
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 20 October 2015.
All research outputs
#22,760,732
of 25,374,917 outputs
Outputs from BMC Medical Genomics
#2,010
of 2,444 outputs
Outputs of similar age
#245,144
of 286,056 outputs
Outputs of similar age from BMC Medical Genomics
#55
of 67 outputs
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