Identity of hereditary cerebellar ataxia, peripheral neuropathy, and hypoalbuminemia

遗传性小脑共济失调、周围神经病和低蛋白血症的鉴别

• 批准号: 13670821
• 负责人: TACHI Nobutada
• 金额: $ 1.98万
• 依托单位: Sapporo Medical University
• 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-13670821/
• 关键词: EOCA-HA; AOA; Aprataxin gene; FLJ20157; AOA1 gene

Early onset cerebellar ataxia with hypoalbuminemia (EOCA-HA) in Japan and autosomal recessive trait of cerebellar ataxia with ocular aparaxia (AOA) in Portugal are clinically and genetically allelelic disorders. Candidate gene of those disorders are located at chromosome 9pl3.3 by homozygous mapping. Its candidate gene was called "Aprataxin". The human aparataxin gene was about 10 kb length and its cDNA was 2.2kb length with 7 exons. The long transcript was constituted with 342 amino acids and the short form was constiyuted with 168 by alternative splicing in exon 3. The mutation of aprataxin gene in EOCA-HA showed most of 689 insertion T homozygously, and small number of compound heterozygote of 689 insertion T and 617C-T. Present our 5 cases had all 689 insertion T homozygously. Based on those observations, 689 insertion T was founder in Japanese EOCA-HA patients.

日本的早发性小脑性共济失调伴低白蛋白血症（EOCA-HA）和葡萄牙的常染色体隐性遗传性小脑性共济失调伴眼性共济失调（AOA）是临床和遗传上的等位基因疾病。通过纯合定位，这些疾病的候选基因位于染色体9p13.3。其候选基因被称为Aprataxin。人aparataxin基因全长约10 kb，cDNA全长2.2kb，有7个外显子。在外显子3上通过选择性剪接，长转录本由342个氨基酸组成，短转录本由168个氨基酸组成。EOCA-HA的aprataxin基因突变以689插入T的纯合突变为主，少数为689插入T和617 C-T的复合杂合子。本组5例689个T细胞均为同种异体插入。基于这些观察结果，689个插入T是日本EOCA-HA患者的创始者。

项目成果

Tachi N, Kozuka N, Chiba S et al.: "A dopuble mutation in a patient with X-linked myotubular myoapthy"Pediatr Neurol. 24. 297-299 (2001)

Tachi N、Kozuka N、Chiba S 等人：“X 连锁肌小管肌病患者的双重突变”Pediatr Neurol。

Tachi N, Chiba S, Matsuo M: "Fukuyama type congenital muscular dystrophy associated with a lack of C-terminal domain of dystrophin"Pediatric Neurol. 24. 373-378 (2001)

Tachi N、Chiba S、Matsuo M：“福山型先天性肌营养不良症与肌营养不良蛋白 C 末端结构域缺乏相关”Pediatric Neurol。

Moreira MC, Barbot C, Tachi N et al.: "Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity"Am J Hum Genet. 68. 501-508 (2001)

Moreira MC、Barbot C、Tachi N 等人：“葡萄牙和日本形式的共济失调-动眼神经失用症到 9p13 的纯合性映射，以及遗传异质性的证据”Am J Hum Genet。

Moreira MC, Barbot C, Tachi N, Kozuka N, Mendonca P, Barros J, Coutinho P, Sequeiros J, Koenig M: "Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9pl3, and evidence for genetic heterogeneity"Am J Hum Genet. 68. 501-5

Moreira MC、Barbot C、Tachi N、Kozuka N、Mendonca P、Barros J、Coutinho P、Sequeiros J、Koenig M：“葡萄牙和日本形式的共济失调-动眼神经失用症与 9pl3 的纯合性映射，以及遗传异质性的证据”Am

Tachi N, Kozuka,N, Ohya,K, Chiba S, Matsuo,M, Matsumura K, Saito K: "Fukuyama type congenital muscular dystrophy associated with a lack of C-terminal domain of dystrophin"Pediatr Neurol. 24. 373-378 (2001)

Tachi N、Kozuka、N、Ohya、K、Chiba S、Matsuo、M、Matsumura K、Saito K：“福山型先天性肌营养不良症与肌营养不良蛋白 C 末端结构域缺乏相关”Pediatr Neurol。