Abstract
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.
| Original language | English (US) |
|---|---|
| Article number | 3103986 |
| Journal | BioMed Research International |
| Volume | 2018 |
| DOIs | |
| State | Published - Jan 1 2018 |
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ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)
- Immunology and Microbiology(all)
Cite this
Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis. / Shang, Haiqiong; Yan, Denise; Tayebi, Naeimeh; Saeidi, Kolsoum; Sahebalzamani, Afsaneh; Feng, Yong; Blanton, Susan H; Liu, Xue Z.
In: BioMed Research International, Vol. 2018, 3103986, 01.01.2018.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis
AU - Shang, Haiqiong
AU - Yan, Denise
AU - Tayebi, Naeimeh
AU - Saeidi, Kolsoum
AU - Sahebalzamani, Afsaneh
AU - Feng, Yong
AU - Blanton, Susan H
AU - Liu, Xue Z
PY - 2018/1/1
Y1 - 2018/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85045941021&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85045941021&partnerID=8YFLogxK
U2 - 10.1155/2018/3103986
DO - 10.1155/2018/3103986
M3 - Article
C2 - 29568747
AN - SCOPUS:85045941021
VL - 2018
JO - BioMed Research International
JF - BioMed Research International
SN - 2314-6133
M1 - 3103986
ER -