Newbury D F, Bonora E, Lamb J A, Fisher S E, Lai C S L, Baird G, Jannoun L, Slonims V, Stott C M, Merricks M J, Bolton P F, Bailey A J, Monaco A P
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
Am J Hum Genet. 2002 May;70(5):1318-27. doi: 10.1086/339931. Epub 2002 Mar 13.
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.
FOXP2基因位于人类7号染色体长臂31区（在SPCH1位点），编码一种含有多聚谷氨酰胺序列和叉头结构域的转录因子。FOXP2在一种严重的单基因形式的言语和语言障碍中发生突变，在一个大的家系中呈分离状态，并且在一个孤立病例中因易位而被破坏。几项关于自闭症谱系障碍的研究表明与7号染色体长臂的类似区域（AUTS1位点）存在连锁关系，这导致有人提出7号染色体长臂31区的单一遗传因素对自闭症和语言障碍都有影响。在本研究中，我们通过关联分析和突变筛查分析，直接评估FOXP2基因对复杂语言障碍和自闭症的影响。我们得出结论，FOXP2基因的编码区变异并非AUTS1连锁的基础，并且该基因不太可能在自闭症或更常见的语言障碍形式中起作用。
