OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
复制标题
DOI：
10.1186/1471-2350-14-95
复制
发表时间：
2013-09-22
影响因子：
--
通讯作者：
Usami S
中科院分区：
文献类型：
--
作者：
Iwasa Y;Nishio SY;Yoshimura H;Kanda Y;Kumakawa K;Abe S;Naito Y;Nagai K;Usami S
听觉神经病变谱系障碍（ANSD）是一种独特的听力损失形式，包括听觉脑干反应（ABR）缺失或严重异常，以及耳声发射（oae）的存在。然而，随着年龄的增长，耳聋消失，使得这种情况很难与其他非综合征性听力损失区分开来。因此，ANSD的频率可能被低估了。本研究的目的是确定非综合征性听力损失的哪一部分是由OTOF突变引起的，OTOF是导致非综合征性ANSD的主要基因。我们筛选了160名无GJB2或SLC26A4突变的日本重度至重度隐性非综合征性听力损失（ARNSHL）患者和192名听力正常的对照组。我们鉴定出5个OTOF致病性突变（p.D398E、p.Y474X、p.N727S、p.R1856Q和p.R1939Q）和6个可能致病的新变异（p.D450E、p.W717X、p.S1368X、p.R1583H、p.p v1778i和p.E1803A）。本研究显示，在日本重度至重度ARNSHL患者中，OTOF突变占3.2% - 7.3%。因此，oof突变在日本耳聋人群中是一个常见的原因，无论是否存在oae，都应考虑进行突变筛查。
Auditory neuropathy spectrum disorder (ANSD) is a unique form of hearing loss that involves absence or severe abnormality of auditory brainstem response (ABR), but also the presence of otoacoustic emissions (OAEs). However, with age, the OAEs disappear, making it difficult to distinguish this condition from other nonsyndromic hearing loss. Therefore, the frequency of ANSD may be underestimated. The aim of this study was to determine what portion of nonsyndromic hearing loss is caused by mutations of OTOF, the major responsible gene for nonsyndromic ANSD. We screened 160 unrelated Japanese with severe to profound recessive nonsyndromic hearing loss (ARNSHL) without GJB2 or SLC26A4 mutations, and 192 controls with normal hearing. We identified five pathogenic OTOF mutations (p.D398E, p.Y474X, p.N727S, p.R1856Q and p.R1939Q) and six novel, possibly pathogenic variants (p.D450E, p.W717X, p.S1368X, p.R1583H, p.V1778I, and p.E1803A). The present study showed that OTOF mutations accounted for 3.2–7.3% of severe to profound ARNSHL patients in Japan. OTOF mutations are thus a frequent cause in the Japanese deafness population and mutation screening should be considered regardless of the presence/absence of OAEs.
登录
查看更多内容
影响因子：
4
作者：
Varga, R.;Avenarius, M. R.;Kimberling, W. J.
通讯作者：
Kimberling, W. J.
DOI：
10.1001/archotol.128.9.1026
发表时间：
2002-09-01
影响因子：
--
作者：
Madden, C;Rutter, M;Choo, DI
通讯作者：
Choo, DI
影响因子：
3.9
作者：
Rodriguez-Ballesteros, Montserrat;Reynoso, Raul;del Castillo, Ignacio
通讯作者：
del Castillo, Ignacio
影响因子：
2.1
作者：
Rance, Gary;Barker, Elizabeth Janet
通讯作者：
Barker, Elizabeth Janet
影响因子：
3.7
作者：
Starr, A;Sininger, Y;Michalewski, HJ
通讯作者：
Michalewski, HJ