儿童功能性构音障碍的分子遗传学研究

Molecular genetics of functional articulation disorder in children

摘要:

遗传因素是造成功能性构音障碍的重要原因。本文综述了最近发现的与功能性构音障碍相关的一些基因和染色体区域。详细介绍了FOXP2基因的结构、表达和功能，以及FOXP2基因在发育性言语失用中的变异。作为重要的转录调控因子，FOXP2基因可以调控很多基因的表达。其中CNTNAP2基因是FOXP2基因的重要靶基因，是影响语言及言语发育的重要基因。功能性构音障碍可能发展为阅读障碍，阅读障碍的候选基因也成为研究功能性构音障碍的重要候选基因。一些与阅读障碍相关的染色体区域3p12-13、15q11-21、6p22 及1p34-36被认为可能与功能性构音障碍相关。位于这部分染色体区域的一些基因如ROBO1基因、ZNF280D 基因、TCF12 基因、EKN1基因、KIAA0319 基因等成为研究功能性构音障碍的候选基因。

Abstract:

Genetic factors are an important cause of functional articulation disorder in children. This article reviews some genes and chromosome regions associated with a genetic susceptibility to functional articulation disorders. The forkhead box P2 (FOXP2) gene on chromosome 7 is introduced in details including its structure, expression and function. The relationship between the FOXP2 gene and developmental apraxia of speech is discussed. As a transcription factor, FOXP2 gene regulates the expression of many genes. CNTNAP2 as an important target gene of FOXP2 is a key gene influencing language development. Functional articulation disorder may be developed to dyslexia, therefore some candidate regions and genes related to dyslexia, such as 3p12-13, 15q11-21, 6p22 and 1p34-36, are also introduced. ROBO1 gene in 3p12.3, ZNF280D gene, TCF12 gene, EKN1 gene in 15q21, and KIAA0319 gene in 6p22 have been candidate genes for the study of functional articulation disorder.