Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis
2018; Hindawi Publishing Corporation; Volume: 2018; Linguagem: Inglês
10.1155/2018/3103986
ISSN2314-6141
AutoresHaiqiong Shang, Denise Yan, Naeimeh Tayebi, Kolsoum Saeidi, Afsaneh Sahebalzamani, Yong Feng, Susan H. Blanton, Xuezhong Liu,
Tópico(s)Ear Surgery and Otitis Media
ResumoHearing 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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