Identification and characterization of genes in patients with severe mental retardation caused by autosomal dominant trait.
常染色体显性遗传性重度智力低下患者基因的鉴定和特征分析。
基本信息
- 批准号:13670158
- 负责人:
- 金额:$ 2.3万
- 依托单位:
- 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:
- 关键词:
项目摘要
Mental retardation (MR) is the most common cause of serious handicap in children and young adults. Defining features of MR include an IQ (intelligence quotient) of less than 70, together with associated functional deficits in adaptive behavior, which manifest themselves before 18 years of age. The molecular mechanisms underlying MR are quite heterogeneous and most of the genes responsible for MR are still unidentified. We have adopted the strategy of determining the chromosomal translocation breakpoints in two patients with profound mental retardation. Genes located at the translocation breakpoints should be candidates for MR and these conditions are likely caused by autosomal dominant traits. One patient (case 1 ) has a chromosomal translocation between 2q22 and 13q22 and the other (case 2) has 6q16 and 12p12. Case 1 has profound mental retardation, facial dysmorphism, microcephaly, delayed motor development, congenital heart disease and Hirschsprung disease, and was diagnosed as suffering from the Hirschsprung disease-Mental retardation (HSCR-MR) syndrome. The other patient has profound mental retardation and delayed motor development. We have identified ZFHX1B gene as a cause of the HSCR-MR syndrome, located at the 2q22 breakpoint. We also determined a translocation breakpoint on 6q16 from case 2. However our results suggest that the MR of case 2 is likely due to a defect in a gene located at 12p12.
精神发育迟滞(MR)是儿童和年轻人严重残疾的最常见原因。MR的定义特征包括IQ(智商)低于70,以及适应行为的相关功能缺陷,这些缺陷在18岁之前表现出来。MR的分子机制是相当异质性和大部分的基因负责MR仍然是未知的。我们采用了确定染色体易位断点的策略,在两个深度精神发育迟滞患者。位于易位断裂点的基因应该是MR的候选基因,这些条件可能是由常染色体显性性状引起的。1例患者(病例1)有2 q22和13 q22之间的染色体易位,另1例(病例2)有6 q16和12 p12。例1患有严重智力低下、面部畸形、小头畸形、运动发育迟缓、先天性心脏病和先天性巨结肠,诊断为先天性巨结肠-智力低下(HSCR-MR)综合征。另一个病人有严重的智力迟钝和运动发育迟缓。我们已经确定ZFHX 1B基因是HSCR-MR综合征的病因,位于2 q22断点。我们还确定了一个易位断裂点6 q16的情况2。然而,我们的研究结果表明,MR的情况下,2可能是由于缺陷的基因位于12 p12。
项目成果
期刊论文数量(13)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Yamada K^*, Yamada Y^*, Nomura N, et al.(計16名): "Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features"Am J Hum Genet. 69. 1178-1185 (2001)
Yamada K^*、Yamada Y^*、Nomura N 等人(总共 16 人):“编码 Smad 相互作用蛋白 1 的 ZFHX1B 中的无义突变和移码突变会导致具有多种临床特征的复杂发育障碍。 《Am J Hum Genet》。69. 1178-1185 (2001)
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Yamada K, et al.: "Molecular analysis of Japanese patients with Rett syndrome : Identification of fire novel mutations and genotype-phenotypecarrelation"Hum Mutat. 18(3). 253-Online #443 (2001)
Yamada K 等人:“日本 Rett 综合征患者的分子分析:火新突变的鉴定和基因型-表型相关性”Hum Mutat。
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- 影响因子:0
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Wakamatsu N, et al.: "Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease"Nature Genet. 27(4). 369-270 (2001)
Wakamatsu N 等人:“编码 Smad 相互作用蛋白 1 的 SIP1 突变导致先天性巨结肠症”Nature Genet。
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- 影响因子:0
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Yamada K, et al.: "A rare case of complete human eryhrocyte AMP deaminase deficiency due to two novel missorse mutations in AMPD3"Hum Mutat. 17(1). 78-Online #395 (2000)
Yamada K 等人:“由于 AMPD3 中两个新的错配突变而导致人类红细胞 AMP 脱氨酶完全缺乏的罕见病例”Hum Mutat。
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- 影响因子:0
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- 通讯作者:
Yamada Y, Miura K, Kumagai T, et al.(計12名): "Molecular analysis of Japanese patients with Rett syndrome : Identification of five novel mutations and genotype-phenotype correlation"Hum Mutat. 18. 253(online#443) (2001)
Yamada Y、Miura K、Kumagai T 等人(共 12 人):“日本 Rett 综合征患者的分子分析:五种新突变的鉴定和基因型-表型相关性”Hum Mutat. 18. 253(online443) )(2001)
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- 影响因子:0
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WAKAMATSU Nobuaki其他文献
WAKAMATSU Nobuaki的其他文献
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{{ truncateString('WAKAMATSU Nobuaki', 18)}}的其他基金
The pathogenic mechanisms of severe intellectual disabiIity caused by PLEKHA5 or SLC19A3 mutations studied using mouse models of the diseases.
使用疾病小鼠模型研究了 PLEKHA5 或 SLC19A3 突变引起的严重智力障碍的致病机制。
- 批准号:
21390319 - 财政年份:2009
- 资助金额:
$ 2.3万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
Molecular and biochemical analysis of the severe mental retardation caused by PLEKHA5 or SLC19A3 mutations.
PLEKHA5或SLC19A3突变引起的严重智力低下的分子和生化分析。
- 批准号:
18390305 - 财政年份:2006
- 资助金额:
$ 2.3万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
Isolation and characterization of the new genes isolated from three diseases presenting with severe psychomotor retardation.
从三种表现为严重精神运动迟缓的疾病中分离出的新基因的分离和表征。
- 批准号:
15390332 - 财政年份:2003
- 资助金额:
$ 2.3万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
Molecular genetic analysis and trial of making mouse model of α-mannosidosis.
α-甘露糖苷中毒小鼠模型的分子遗传学分析及制作试验。
- 批准号:
11670630 - 财政年份:1999
- 资助金额:
$ 2.3万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
Molecular genetic analysis and establishment of the genetic diagnosis of autosomal recessive malignant limb-girdle muscular dystrophy.
常染色体隐性遗传恶性肢带型肌营养不良症的分子遗传学分析及遗传学诊断的建立。
- 批准号:
09670658 - 财政年份:1997
- 资助金额:
$ 2.3万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
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