Sanjuán J, Tolosa A, Colomer-Revuelta J, Ivorra-Martínez J, Llacer B, Jover M
Universidad de Valencia, España.
Rev Neurol. 2010 Mar 3;50 Suppl 3:S101-6.
To review selectively the status of the genetic research in the field of speech and language disorders.
Major contributions to the field are selected, presented, and discussed. Twin and family studies have demonstrated that most cognitive traits including language are moderately to highly heritable. Rare mutations affecting the FOXP2 transcription factor cause a monogenic speech and language disorder. The results of association studies of FOXP2 with several language disorders are controversial, probably due to the problem of phenotype definition.
Common forms of disorders of speech and language are mostly likely associated with variability in the function of multiple genes. Longitudinal studies looking at gene environmental interaction might be important in order to understand the mechanism of language development.
选择性回顾言语和语言障碍领域的遗传学研究现状。
选取、呈现并讨论了该领域的主要贡献。双胞胎和家族研究表明，包括语言在内的大多数认知特征具有中度到高度的遗传性。影响FOXP2转录因子的罕见突变会导致单基因言语和语言障碍。FOXP2与几种语言障碍的关联研究结果存在争议，可能是由于表型定义问题。
言语和语言障碍的常见形式很可能与多个基因功能的变异性有关。为了理解语言发展的机制，研究基因与环境相互作用的纵向研究可能很重要。
