FOXP2 is not a major susceptibility gene for autism or specific language impairment
FOXP2 is not a major susceptibility gene for autism or specific language impairment
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DOI：
10.1086/339931
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发表时间：
2002-05-01
影响因子：
9.8
通讯作者：
Monaco, AP
中科院分区：
文献类型：
--
作者：
Newbury, DF;Bonora, E;Monaco, AP
FOXP2基因位于人7q31（SPCH 1位点），编码一个含有多聚谷氨酰胺区和叉头结构域的转录因子。FOXP2在言语和语言障碍的严重单基因形式中突变，在单个大谱系中分离，并且在孤立病例中也被易位破坏。一些自闭症的研究已经证明了与7q（AUTS 1基因座）的类似区域的联系，导致7q31上的单一遗传因素导致自闭症和语言障碍。在本研究中，我们通过使用关联和突变筛选分析，直接评估FOXP2基因对复杂语言障碍和自闭症的影响。我们的结论是，FOXP2的编码区变异并不构成AUTS 1连锁的基础，该基因不太可能在自闭症或更常见的语言障碍中发挥作用。
The FOXP2 gene, located on human 7q31 (at the SPCH1 locus), encodes a transcription factor containing a polyglutamine tract and a forkhead domain. FOXP2 is mutated in a severe monogenic form of speech and language impairment, segregating within a single large pedigree, and is also disrupted by a translocation in an isolated case. Several studies of autistic disorder have demonstrated linkage to a similar region of 7q (the AUTS1 locus), leading to the proposal that a single genetic factor on 7q31 contributes to both autism and language disorders. In the present study, we directly evaluate the impact of the FOXP2 gene with regard to both complex language impairments and autism, through use of association and mutation screening analyses. We conclude that coding-region variants in FOXP2 do not underlie the AUTS1 linkage and that the gene is unlikely to play a role in autism or more common forms of language impairment.