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Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis
Joint Authors
Yan, Denise
Liu, Xue Zhong
Shang, Haiqiong
Tayebi, Naeimeh
Saeidi, Kolsoum
Sahebalzamani, Afsaneh
Feng, Yong
Blanton, Susan
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-01-15
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Hearing loss (HL) is a common sensory disorder in humans with high genetic heterogeneity.
To date, over 145 loci have been identified to cause nonsyndromic deafness.
Furthermore, there are countless families unsuitable for the conventional linkage analysis.
In the present study, we used a custom capture panel (MiamiOtoGenes) to target sequence 180 deafness-associated genes in 5 GJB2 negative deaf probands with autosomal recessive nonsyndromic HL from Iran.
In these 5 families, we detected one reported and six novel mutations in 5 different deafness autosomal recessive (DFNB) genes (TRIOBP, LHFPL5, CDH23, PCDH15, and MYO7A).
The custom capture panel in our study provided an efficient and comprehensive diagnosis for known deafness genes in small families.
American Psychological Association (APA)
Shang, Haiqiong& Yan, Denise& Tayebi, Naeimeh& Saeidi, Kolsoum& Sahebalzamani, Afsaneh& Feng, Yong…[et al.]. 2018. Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis. BioMed Research International،Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1125626
Modern Language Association (MLA)
Shang, Haiqiong…[et al.]. Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis. BioMed Research International No. 2018 (2018), pp.1-7.
https://search.emarefa.net/detail/BIM-1125626
American Medical Association (AMA)
Shang, Haiqiong& Yan, Denise& Tayebi, Naeimeh& Saeidi, Kolsoum& Sahebalzamani, Afsaneh& Feng, Yong…[et al.]. Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1125626
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1125626