Detection of New Locus Associated with Nonsyndromic Hearing Loss by Linkage Analysis

通过连锁分析检测与非综合征性听力损失相关的新位点

• 批准号: 13671796
• 负责人: ISHIKAWA Kazuhiro
• 金额: $ 1.86万
• 依托单位: Jichi Medical School
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2001
• 资助国家: 日本
• 起止时间: 2001 至 2002
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-13671796/
• 关键词: Hereditary Hearing Loss; Mitochondrial DNA; T7511C Mutation; 7472insC Mutation; GJB2; MYO7A

We identified a Japanese family with nonsnydromic hearing loss harboring the T7511C mutation in the mitochondrial tRNA^<Ser(UCN)> gene, which is, to our knowledge, the second reported family with this mutation. In histological findings, there was severe degeneration of spiral ganglion cells throughout the cochlea.In the second study, we identified a Japanese family with the 7472insC mutation in the mitochondrial tRNA^<Ser(UCN)> gene, which is the first reported family in Asia. These reports showed that families with maternally transmitted nonsydromic hearing loss should be investigated for mutations in the tRNA^<Ser(UCN)> gene.The third report showed that the phenotype of DFNA11 is postlingual, nosyndromic sensorineural hearing loss with gradual progression. The DFNA11 phenotype is mildest among phenotypes caused by MYO7A mutations.

我们确定了一个日本家庭患有非元素性听力损失，该家庭含有线粒体tRNA^<ser（ucn）>基因中的T7511c突变，据我们所知，这是第二个报告了这种突变的家庭。在组织学发现中，在整个耳蜗中，螺旋神经节细胞发生了严重的变性。在第二项研究中，我们在线粒体tRNA^<ser（ucn）>基因中确定了一个日本家庭，这是亚洲第一个报道的家庭。这些报告表明，应研究患有母体传播的非全面听力损失的家庭，以进行tRNA^<ser（ucn）>基因的突变。第三份报告显示，DFNA11的表型是后语言，逐渐发电性的感觉式听力听力随逐渐进展的。 DFNA11表型在由MyO7a突变引起的表型中最温和。

项目成果

Tamagawa Y, Ishikawa Ka, Ishikawa Ko: "Clinical presentation of DFNA11 (MYO7A). In Cremers C.W.R.J., Smith R.J.H.(Eds.) : Genetic Hearing Impairment. Adv Otorhinolaryngol"Basel, Karger. 5 (2002)

Tamakawa Y、Ishikawa Ka、Ishikawa Ko：“DFNA11 (MYO7A) 的临床表现。在 Cremers C.W.R.J.、Smith R.J.H.（编辑）：遗传性听力障碍。Adv Otorhinolaryngol”巴塞尔，Karger。

Tamagawa Y: "Phenotype of DFNA11, a nosydromic hearing loss caused by a myosin VIIA mutation"Laryngoscope. 112. 292-297 (2002)

Tamakawa Y：“DFNA11 的表型，一种由肌球蛋白 VIIA 突变引起的症状性听力损失”喉镜。

Ishikawa Ko, Tamagawa Y, Takahashi K: "Nonsyndromic hearing loss caused by a mitochondrial T7511C mutation"Laryngoscope. 112. 1494-1499 (2002)

Ishikawa Ko、Tamakawa Y、Takahashi K：“线粒体 T7511C 突变引起的非综合征性听力损失”喉镜。

Tamagawa Y, Ishikawa Ka, Ishikawa Ko, 他: "Phenotype of DFNA11, a nonsyndromic hearing loss caused by a myosin VIIA mutation"Laryngoscope. 112. 292-297 (2002)

Tamakawa Y、Ishikawa Ka、Ishikawa Ko 等：“DFNA11 的表型，由肌球蛋白 VIIA 突变引起的非综合征性听力损失”喉镜。

Tamagawa Y, Ishikawa Ka, Ishikawa Ko: "Phenotype of DFNA11, a nonsyndromic hearing loss caused by a myosin VIIA mutation"Laryngoscope. 112. 292-297 (2002)

Tamakawa Y、Ishikawa Ka、Ishikawa Ko：“DFNA11 的表型，一种由肌球蛋白 VIIA 突变引起的非综合征性听力损失”喉镜。