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Targeted Next-Generation Sequencing of a Deafness Gene Panel (Miamiotogenes) Analysis in Families Unsuitable for Linkage Analysis Publisher Pubmed



Shang H1, 2 ; Yan D1 ; Tayebi N3 ; Saeidi K4, 5 ; Sahebalzamani A6 ; Feng Y7 ; Blanton S1, 8 ; Liu X1, 7, 8
Authors

Source: BioMed Research International Published:2018


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. © 2018 Haiqiong Shang et al.
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