Newbury Dianne F, Monaco Anthony P
Welcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, oxford, United Kingdom.
Curr Opin Pediatr. 2002 Dec;14(6):696-701. doi: 10.1097/00008480-200212000-00009.
In 2001, scientists characterized the first gene to be implicated in the cause of a speech and language disorder (FOXP2). Although FOXP2 was discovered using a unique family in which a severe speech and language disorder segregates in a monogenic fashion, at the time this discovery was heralded as "a milestone in understanding this uniquely human characteristic." Approximately 1 year later, we discuss the impact of this gene discovery on the study of language and review the relevance of this gene to both specific language impairment and language aspects of the autistic phenotype. We also discuss recent molecular genetic advances made in the study of generalized specific language impairment.
2001年，科学家鉴定出第一个与言语和语言障碍病因相关的基因（FOXP2）。尽管FOXP2是通过一个独特的家族发现的，在这个家族中一种严重的言语和语言障碍以单基因方式分离，但当时这一发现被誉为“理解这种独特人类特征的一个里程碑”。大约1年后，我们讨论了这一基因发现对语言研究的影响，并回顾了该基因与特定语言障碍及自闭症表型语言方面的相关性。我们还讨论了在广泛性特定语言障碍研究中取得的最新分子遗传学进展。
