Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders.
作者： Jun Shen , Sharyn Lincoln , David T. Miller
DOI: 10.1007/S40142-014-0047-5
关键词:
摘要: The prevalence of autism spectrum disorders (ASD) continues to increase. Genetic factors play an important role in the etiology ASD, although specific genetic causes are identified only a minority cases. Recent advances have accelerated discovery genes implicated ASD through convergent genomic analysis genome-wide association studies, chromosomal microarray, exome sequencing, genome and gene networks. Hundreds candidate for been reported, yet handful proven causative. Symptoms complex highly variable, most cases likely due cumulative factors, interactions among them, as well environmental factors. Here we summarize recent findings research regarding genes, describe major molecular processes neural development that may be disrupted discuss implication clinical diagnostic testing counseling. Continued will eventually translate into innovative approaches prevention treatment ASD.
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