TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad.
TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad.
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DOI：
10.1002/mgg3.397
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发表时间：
2018-04-19
影响因子：
2
通讯作者：
Runge CL
中科院分区：
文献类型：
--
作者：
Guillen-Ahlers H;Erbe CB;Chevalier FD;Montoya MJ;Zimmerman KD;Langefeld CD;Olivier M;Runge CL
感音神经性听力损失（SNHL）是一种常见的听力损失形式，可遗传或由环境损伤引发;听神经病谱系障碍（ANSD）是一种具有独特诊断标准的SNHL亚型。与这些损伤相关的遗传因素是广泛和多样的，但因果遗传因素很少被表征。一个家庭的二元体，两个人工耳蜗植入者，提出了听力史的双边，进行性SNHL，和ANSD。进行全外显子组测序以鉴定两个家族成员共有的编码序列变体，并筛选与听力损失相关的基因和已知与SNHL和ANSD相关的变体。这两个家庭成员都是成功的人工耳蜗植入者，证明了他们的设备有效的听觉神经刺激。遗传分析显示TMTC 2基因中存在一个突变（rs35725509），该突变先前已被报道为另一个北方欧洲血统家族SNHL的可能遗传原因。这项研究首次证实了rs35725509变异在一个独立的家庭作为一个可能的原因，复杂的听力损失表型（SNHL和ANSD）在这个家庭的二分体观察。
Sensorineural hearing loss (SNHL) is a common form of hearing loss that can be inherited or triggered by environmental insults; auditory neuropathy spectrum disorder (ANSD) is a SNHL subtype with unique diagnostic criteria. The genetic factors associated with these impairments are vast and diverse, but causal genetic factors are rarely characterized. A family dyad, both cochlear implant recipients, presented with a hearing history of bilateral, progressive SNHL, and ANSD. Whole‐exome sequencing was performed to identify coding sequence variants shared by both family members, and screened against genes relevant to hearing loss and variants known to be associated with SNHL and ANSD. Both family members are successful cochlear implant users, demonstrating effective auditory nerve stimulation with their devices. Genetic analyses revealed a mutation (rs35725509) in the TMTC2 gene, which has been reported previously as a likely genetic cause of SNHL in another family of Northern European descent. This study represents the first confirmation of the rs35725509 variant in an independent family as a likely cause for the complex hearing loss phenotype (SNHL and ANSD) observed in this family dyad.
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DOI：
10.1093/bioinformatics/btq033
发表时间：
2010-03-15
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Quinlan AR;Hall IM
通讯作者：
Hall IM
DOI：
10.1093/bioinformatics/btr670
发表时间：
2012-02-01
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Boeva V;Popova T;Bleakley K;Chiche P;Cappo J;Schleiermacher G;Janoueix-Lerosey I;Delattre O;Barillot E
通讯作者：
Barillot E
DOI：
10.1007/978-0-387-77501-2_1
发表时间：
2008-01-01
期刊：
STATISTICAL LEARNING FROM A REGRESSION PERSPECTIVE
影响因子：
--
作者：
Berk, Richard A.
通讯作者：
Berk, Richard A.
影响因子：
4
作者：
Kim, TB;Isaacson, B;Lesperance, MM
通讯作者：
Lesperance, MM
影响因子：
2.7
作者：
Berlin, Charles I.;Hood, Linda J.;Frisch, Stefan A.
通讯作者：
Frisch, Stefan A.