Identification of Novel Mutations in the <i>KCNQ4</i> Gene of Patients with Nonsyndromic Deafness from Taiwan

Ching-Chyuan Su; Jiann-Jou Yang; Jia-Ching Shieh; Mao-Chang Su; Shuan-Yow Li

doi:10.1159/000096154

Identification of Novel Mutations in the KCNQ4 Gene of Patients with Nonsyndromic Deafness from Taiwan

Audiology and Neurotology ◽

10.1159/000096154 ◽

2007 ◽

Vol 12 (1) ◽

pp. 20-26 ◽

Cited By ~ 19

Author(s):

Ching-Chyuan Su ◽

Jiann-Jou Yang ◽

Jia-Ching Shieh ◽

Mao-Chang Su ◽

Shuan-Yow Li

Keyword(s):

Novel Mutations ◽

Nonsyndromic Deafness ◽

I Gene

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Novel Mutations in the EPO-R, VHL Genes and a Reported Mutation in EPAS1 Gene in the Congenital Erythrocytosis Patients in a Southern State of India

SSRN Electronic Journal ◽

10.2139/ssrn.3502366 ◽

2019 ◽

Author(s):

Chodimella Chandrasekhar ◽

Pasupuleti Santhosh Kumar ◽

Potukuchi Venkata Gurunadha Krishna Sarma

Keyword(s):

Novel Mutations ◽

Southern State ◽

I Gene

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

BioMed Research International ◽

10.1155/2018/3103986 ◽

2018 ◽

Vol 2018 ◽

pp. 1-7 ◽

Cited By ~ 8

Author(s):

Haiqiong Shang ◽

Denise Yan ◽

Naeimeh Tayebi ◽

Kolsoum Saeidi ◽

Afsaneh Sahebalzamani ◽

...

Keyword(s):

Hearing Loss ◽

Linkage Analysis ◽

Autosomal Recessive ◽

Target Sequence ◽

Novel Mutations ◽

Nonsyndromic Deafness ◽

Targeted Next Generation Sequencing ◽

Deafness Gene ◽

Comprehensive Diagnosis ◽

Generation Sequencing

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.

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