Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients
Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients
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DOI：
10.1016/j.braindev.2004.06.002
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发表时间：
2005-04-01
影响因子：
1.7
通讯作者：
Momoi, MY
中科院分区：
文献类型：
--
作者：
Li, H;Yamagata, T;Momoi, MY
我们分析了FOXP2基因，该基因编码一个假定的转录因子，含有一个多聚谷氨酰胺道和一个叉头DNA结合域，在自闭症中可能的致病突变。据报道，FOXP2在患有严重言语和语言障碍的患者中发生突变。FOXP2位于染色体7q31，这是自闭症的基因座之一。自闭症和特定语言障碍有一些共同的临床表型。此外，FOXP2在脑中大量表达。我们使用变性高效液相色谱法和直接测序法筛选了53名日本自闭症患者FOXP2的所有外显子的致病突变。一个delCAA在外显子5导致一个谷氨酰胺缺失在第一个多聚谷氨酰胺道中检测到4例患者和50个对照个体中的2个。TT等位基因的频率与G到T碱基的变化在内含子15中的自闭症人群显着高。其他碱基变化包括外显子5中的一个沉默碱基变化（A569G）和内含子中的三个碱基变化。我们的研究结果可能表明自闭症与FOXP2基因或附近的基因之间的关系。(c)2004 Elsevier B.V.保留所有权利。
We analyzed the FOXP2 gene, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, for a possible causative mutation in autism. FOXP2 was reported to be mutated in patients with a severe speech and language disorder. FOXP2 was located on chromosome 7q31, which is one of the loci involved in autism. Autism and specific language impairment share some of their clinical phenotypes. In addition, FOXP2 was expressed abundantly in the brain. We screened all of the exons of FOXP2 for causative mutations in 53 Japanese autistic patients using denaturing high-performance liquid chromatography and direct sequencing. A delCAA in exon 5 causing one glutamine deletion in the first polyglutamine tract was detected in four patients and in 2 of 50 control individuals. The frequency of the TT allele with the G to T base change in intron 15 was significantly high in the autistic population. The other base changes included one silent base change (A569G) in exon 5 and three in introns. Our results may suggest a relationship between autism and the FOXP2 gene or a gene located nearby. (c) 2004 Elsevier B.V. All rights reserved.