Evidence for genotype-phenotype correlation for OTOF mutations.
Evidence for genotype-phenotype correlation for OTOF mutations.
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DOI：
10.1016/j.ijporl.2014.03.022
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发表时间：
2014-06
影响因子：
1.5
通讯作者：
Tekin, Mustafa
中科院分区：
文献类型：
--
作者：
Yildirim-Baylan, Muzeyyen;Bademci, Guney;Duman, Duygu;Ozturkmen-Akay, Hatice;Tokgoz-Yilmaz, Suna;Tekin, Mustafa
这项研究的目的是评估OTOF基因突变受试者的听觉表型，以描述基因型与表型的相关性。研究对象包括来自三个OTOF纯合子突变家系的22名受影响成员。对9名受试者进行耳镜检查、纯音测听、听性脑干反应、听性脑干反应和耳声发射测试。纯合子c.4718T>；C(p.Ile1573Thr)突变与听神经病/听觉不同步(AN/AD)表型和进行性感音神经性耳聋有关，而在另一个家系中，c.4467dupC(p.I1490HfsX19)纯合突变与无AN/AD的4个亲属的重度感音神经性耳聋相关。在另一家系中的一例患者中，C.1958delC(p.Pro653LeufsX13)纯合子突变与无AN/AD的中度感音神经性聋相关。与不同的OTOF突变相关的听力学表型似乎始终是不同的，这表明存在一种基因型-表型相关性。
The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations. Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem responses, and otoacoustic emission tests. Homozygous c.4718T>C (p.Ile1573Thr) mutation was associated with the auditory neuropathy/auditory dys-synchrony (AN/AD) phenotype and with progressive sensorineural hearing loss in four siblings in one family, while homozygous c.4467dupC (p.I1490HfsX19) was associated with severe to profound sensorineural hearing loss without AN/AD in four relatives in another family. Homozygous c.1958delC (p.Pro653LeufsX13) mutation was associated with moderate sensorineural hearing loss without AN/AD in one affected person in an additional family. The audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation.
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影响因子：
--
作者：
Iwasa Y;Nishio SY;Yoshimura H;Kanda Y;Kumakawa K;Abe S;Naito Y;Nagai K;Usami S
通讯作者：
Usami S
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：
3.9
作者：
Rodriguez-Ballesteros, Montserrat;Reynoso, Raul;del Castillo, Ignacio
通讯作者：
del Castillo, Ignacio
两名 OTOF 基因突变儿童的人工耳蜗植入结果
DOI：
10.1016/j.ijporl.2005.09.006
发表时间：
2006-04-01
影响因子：
1.5
作者：
Rouillon, I;Marcolla, A;Loundon, N
通讯作者：
Loundon, N