Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
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DOI：
10.1007/s00439-021-02351-7
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发表时间：
2022-04
期刊：
影响因子：
5.3
通讯作者：
Usami, Shin-ichi
中科院分区：
文献类型：
--
作者：
Iwasa, Yoh-ichiro;Nishio, Shin-ya;Yoshimura, Hidekane;Sugaya, Akiko;Kataoka, Yuko;Maeda, Yukihide;Kanda, Yukihiko;Nagai, Kyoko;Naito, Yasushi;Yamazaki, Hiroshi;Ikezono, Tetsuo;Matsuda, Han;Nakai, Masako;Tona, Risa;Sakurai, Yuika;Motegi, Remi;Takeda, Hidehiko;Kobayashi, Marina;Kihara, Chiharu;Ishino, Takashi;Morita, Shin-ya;Iwasaki, Satoshi;Takahashi, Masahiro;Furutate, Sakiko;Oka, Shin-ichiro;Kubota, Toshinori;Arai, Yasuhiro;Kobayashi, Yumiko;Kikuchi, Daisuke;Shintani, Tomoko;Ogasawara, Noriko;Honkura, Yohei;Izumi, Shuji;Hyogo, Misako;Ninoyu, Yuzuru;Suematsu, Mayumi;Nakayama, Jun;Tsuchihashi, Nana;Okami, Mayuri;Sakata, Hideaki;Yoshihashi, Hiroshi;Kobayashi, Taisuke;Kumakawa, Kozo;Yoshida, Tadao;Esaki, Tomoko;Usami, Shin-ichi
OTOF基因突变是遗传性听力损失的常见原因，也是听神经病谱系障碍（ANSD）的主要原因。尽管有报道称，大多数OTOF突变患者具有稳定的、先天性的或语前发作的重度至极重度听力损失，但也有部分患者表现出不典型的临床表型，OTOF突变患者的基因型-表型相关性尚不完全清楚。本研究旨在揭示OTOF相关性听力损失患者的详细临床特征及其基因型-表型相关性。我们的数据库中有64例诊断为OTOF相关听力损失的患者的详细临床信息。如前所述，大多数患者（90.6%）表现为“典型”表型;语前和重度至极重度听力损失。47例患者（73.4%）接受了人工耳蜗植入手术，并显示出成功的结局;约85-90%的患者显示人工耳蜗植入后的听力水平为20-39 dB，听觉表现分类（CAP）量表为6级或更高。尽管截短突变和p.Arg1939Gln与重度表型明显相关，但几乎一半的具有一个或多个非截短突变的患者表现为轻度至中度听力损失。值得注意的是，p.His513Arg、p.Ile1573Thr和p.Glu1910Lys患者显示出“真正的”听神经病样临床特征。在这项研究中，我们在迄今为止研究的最大队列中阐明了OTOF相关听力损失患者的基因型-表型相关性和人工耳蜗植入的疗效。我们相信本研究中发现的临床特征和基因型-表型相关性将为OTOF相关性听力损失患者的术前咨询和适当的干预提供支持。在线版本包含补充材料，可通过10.1007/s 00439 -021-02351-7获得。
Mutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype–phenotype correlation in patients with OTOF mutations is not yet fully understood. In this study, we aimed to reveal detailed clinical characteristics of OTOF-related hearing loss patients and the genotype–phenotype correlation. Detailed clinical information was available for 64 patients in our database who were diagnosed with OTOF-related hearing loss. As reported previously, most of the patients (90.6%) showed a “typical” phenotype; prelingual and severe-to-profound hearing loss. Forty-seven patients (73.4%) underwent cochlear implantation surgery and showed successful outcomes; approximately 85–90% of the patients showed a hearing level of 20–39 dB with cochlear implant and a Categories of Auditory Performance (CAP) scale level 6 or better. Although truncating mutations and p.Arg1939Gln were clearly related to severe phenotype, almost half of the patients with one or more non-truncating mutations showed mild-to-moderate hearing loss. Notably, patients with p.His513Arg, p.Ile1573Thr and p.Glu1910Lys showed “true” auditory neuropathy-like clinical characteristics. In this study, we have clarified genotype–phenotype correlation and efficacy of cochlear implantation for OTOF-related hearing loss patients in the biggest cohort studied to date. We believe that the clinical characteristics and genotype–phenotype correlation found in this study will support preoperative counseling and appropriate intervention for OTOF-related hearing loss patients. The online version contains supplementary material available at 10.1007/s00439-021-02351-7.
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DOI：
10.1038/gim.2017.143
发表时间：
2018-04
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Almontashiri NAM;Alswaid A;Oza A;Al-Mazrou KA;Elrehim O;Tayoun AA;Rehm HL;Amr SS
通讯作者：
Amr SS
DOI：
10.1007/s10162-009-0181-z
发表时间：
2009-12-01
影响因子：
2.4
作者：
Santarelli, Rosamaria;del Castillo, Ignacio;Starr, Arnold
通讯作者：
Starr, Arnold
影响因子：
4
作者：
Varga, R.;Avenarius, M. R.;Kimberling, W. J.
通讯作者：
Kimberling, W. J.
影响因子：
11.1
作者：
Al-Moyed, Hanan;Cepeda, Andreia P.;Reisinger, Ellen
通讯作者：
Reisinger, Ellen
影响因子：
3.9
作者：
Rodriguez-Ballesteros, Montserrat;Reynoso, Raul;del Castillo, Ignacio
通讯作者：
del Castillo, Ignacio