tailieunhanh - báo cáo khoa học: " Recent advances in the genetics of language impairment"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Recent advances in the genetics of language impairment | Newbury et al. Genome Medicine 2010 2 6 http content 2 1 6 REVIEW L_ Recent advances in the genetics of language impairment Dianne F Newbury Simon E Fisher and Anthony P Monaco Abstract Specific language impairment SLI is defined as an unexpected and persistent impairment in language ability despite adequate opportunity and intelligence and in the absence of any explanatory medical conditions. This condition is highly heritable and affects between 5 and 8 of pre-school children. Over the past few years investigations have begun to uncover genetic factors that may contribute to susceptibility to language impairment. So far variants in four specific genes have been associated with spoken language disorders - forkhead box P2 FOXP2 and contactin-associated protein-like 2 CNTNAP2 on chromosome 7 and calcium-transporting ATPase 2C2 ATP2C2 and c-MAF inducing protein CMIP on chromosome 16. Here we describe the different ways in which these genes were identified as candidates for language impairment. We discuss how characterization of these genes and the pathways in which they are involved may enhance our understanding of language disorders and improve our understanding of the biological foundations of language acquisition. Introduction Language is a quintessential human trait that for the most part proceeds along a recognized trajectory with minimal explicit instruction 1 . In some cases however language acquisition is not so straightforward and language ability is delayed or permanently impaired. Sometimes these impairments form part of a recognized medical condition such as learning deficit autism or deafness but often no obvious cause can be identified. In such cases the language deficit is usually classified as specific language impairment SLI 2 . As such SLI is usually diagnosed through exclusionary criteria rather Correspondence dianne@ Wellcome Trust Centre for Human Genetics University of Oxford Roosevelt Drive Headington .