Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Tufts University, Ballou Hall, Medford, MA 02155, USA.
Genes (Basel). 2014 Apr 4;5(2):285-309. doi: 10.3390/genes5020285.
Reading and language disorders are common childhood conditions that often co-occur with each other and with other neurodevelopmental impairments. There is strong evidence that disorders, such as dyslexia and Specific Language Impairment (SLI), have a genetic basis, but we expect the contributing genetic factors to be complex in nature. To date, only a few genes have been implicated in these traits. Their functional characterization has provided novel insight into the biology of neurodevelopmental disorders. However, the lack of biological markers and clear diagnostic criteria have prevented the collection of the large sample sizes required for well-powered genome-wide screens. One of the main challenges of the field will be to combine careful clinical assessment with high throughput genetic technologies within multidisciplinary collaborations.
阅读和语言障碍是常见的儿童疾病,它们经常相互伴随发生,也常与其他神经发育障碍共同出现。有强有力的证据表明,阅读障碍和特定语言障碍(SLI)等疾病具有遗传基础,但我们预计遗传因素的影响是复杂的。迄今为止,只有少数几个基因与这些特征有关。它们的功能特征为神经发育障碍的生物学提供了新的见解。然而,由于缺乏生物标志物和明确的诊断标准,因此无法收集到进行全基因组大规模筛查所需的大样本量。该领域的主要挑战之一将是在多学科合作中,将仔细的临床评估与高通量遗传技术相结合。