scholarly journals A novel compound heterozygous mutation in the MYO15A gene in autosomal recessive hearing loss identified by targeted massively parallel sequencing

2019 ◽  
Vol 4 (3) ◽  
Author(s):  
Guangjie Zhu ◽  
dengbin Ma ◽  
Lusen Shi ◽  
Han Zhou ◽  
Jie Chen ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Massively Parallel Sequencing ◽  
Massively Parallel ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Parallel Sequencing

Novel Mutations in LRTOMT Associated With Moderate Progressive Hearing Loss in Autosomal Recessive Inheritance

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 142S-147S ◽  
Author(s):  
Aya Ichinose ◽  
Hideaki Moteki ◽  
Mitsuru Hattori ◽  
Shin-ya Nishio ◽  
Shin-ichi Usami
Keyword(s):  
Hearing Loss ◽  
Massively Parallel Sequencing ◽  
Autosomal Recessive Inheritance ◽  
Japanese Patients ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Coding Region ◽  
Novel Mutations ◽  
First Case

Objective: We present a patient who was identified with novel mutations in the LRTOMT gene and describe the clinical features of the phenotype including serial audiological findings. Methods: One hundred six Japanese patients with mild to moderate sensorineural hearing loss from unrelated and nonconsanguineous families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic cause of hearing loss. Results: Compound heterozygotes with a novel frame-shift mutation and a missense mutation were identified in the LRTOMT gene. The mutated residues were segregated in both alleles of LRTOMT, present within the LRTOMT2 protein coding region. The patient had moderate sloping hearing loss at high frequencies, which progressed at 1000 Hz and higher frequencies over a period of 6 years. Conclusion: Hearing loss caused by mutations in the LRTOMT gene is extremely rare. This is the first case report of a compound heterozygous mutation in a nonconsanguineous family.

Novel Mutations in GRXCR1 at DFNB25 Lead to Progressive Hearing Loss and Dizziness

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 129S-134S ◽  
Author(s):  
Kentaro Mori ◽  
Ikuyo Miyanohara ◽  
Hideaki Moteki ◽  
Shin-ya Nishio ◽  
Yuichi Kurono ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Massively Parallel Sequencing ◽  
Massively Parallel ◽  
Compound Heterozygous ◽  
Nonsyndromic Hearing Loss ◽  
Novel Mutations ◽  
Progressive Hearing Loss ◽  
Severe Hearing Loss ◽  
Parallel Sequencing ◽  
Targeted Genomic Enrichment

Objective: We identified 2 patients in 1 family who had novel mutations in GRXCR1, which caused progressive hearing loss. Methods: One thousand one hundred twenty Japanese hearing loss patients with sensorineural hearing loss from unrelated families were enrolled in this study. Targeted genomic enrichment with massively parallel sequencing of all known nonsyndromic hearing loss genes was used to identify the genetic causes of hearing loss. Results: In this study, 2 affected individuals with compound heterozygous mutations—c.439C>T (p.R147C) and c.784C>T (p.R262X)—in GRXCR1 were identified. The proband had moderate to severe hearing loss and suffered from dizziness with bilateral canal paralysis. Conclusion: Our cases are the first identified in the Japanese population and are consistent with previously reported cases. The frequency of mutations in GRXCR1 seems to be extremely rare. This study underscores the importance of using comprehensive genetic testing for hearing loss. Furthermore, longitudinal audiologic assessment and precise vestibular testing are necessary for a better understanding of the mechanisms of hearing loss and vestibular dysfunction caused by GRXCR1 mutations.

scholarly journals Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS , in a Finnish family

2016 ◽  
Vol 4 (12) ◽  
pp. 1151-1156 ◽  
Author(s):  
Johanna Palmio ◽  
Mikko Kärppä ◽  
Peter Baumann ◽  
Sini Penttilä ◽  
Jukka Moilanen ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Spastic Ataxia

scholarly journals USH2A mutations identified by massively parallel sequencing in 3 children with sensorineural hearing loss

2019 ◽  
Vol 62 (3) ◽  
pp. 218-223
Author(s):  
Mayuri Okami ◽  
Momoko Tsukahara ◽  
Kenji Okami ◽  
Masahiro Iida ◽  
Kazumi Takahashi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Massively Parallel Sequencing ◽  
Sensorineural Hearing ◽  
Massively Parallel ◽  
Parallel Sequencing

scholarly journals A novel compound heterozygous mutation in the GJB2 gene is associated with non-syndromic hearing loss in a Chinese family

2018 ◽  
Vol 12 (5) ◽  
pp. 470-475 ◽  
Author(s):  
Haiou Jiang ◽  
Youya Niu ◽  
Lingfeng Qu ◽  
Xueshuang Huang ◽  
Xinlong Zhu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Compound Heterozygous Mutation ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Syndromic Hearing Loss ◽  
I Gene
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