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- Haiqiong Shang, Denise Yan, Naeimeh Tayebi, Kolsoum Saeidi, Afsaneh Sahebalzamani, Yong Feng, Susan Blanton, and Xuezhong Liu.
- Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
- Biomed Res Int. 2018 Jan 1; 2018: 3103986.
AbstractHearing 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.
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