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.

我们发现了一个患有非综合征性听力损失的日本家庭，其线粒体 tRNA^<Ser(UCN)> 基因中存在 T7511C 突变，据我们所知，这是第二个报告的具有该突变的家庭。组织学结果显示，整个耳蜗螺旋神经节细胞严重退化。在第二项研究中，我们鉴定了一个线粒体tRNA^<Ser(UCN)>基因7472insC突变的日本家族，这是亚洲第一个报道的家族。这些报告表明，患有母源性非综合征性听力损失的家庭应调查 tRNA^<Ser(UCN)> 基因的突变。第三份报告表明，DFNA11 的表型是舌后、非综合征性感音神经性听力损失，并逐渐进展。 DFNA11 表型是 MYO7A 突变引起的表型中最温和的。

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: "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。

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。