Extract

Autism or autism spectrum disorder (ASD) is a relatively common (0.3% in Taiwan), multi-factorial, genetically and clinically heterogeneous, childhood-onset neurodevelopmental disorder. Due to its high heritability and severe long-term impairment without available laboratory diagnosis, effective prevention or treatment, this disastrous disease has been prioritized for molecular genetic studies. Recent CNVs investigation to identify rare variants and GWA study with endophenotype approaches are promising strategies to identify common genetic variants. In addition to intermediate phenotypes such as head circumstance, speech delay, social impairments and stereotyped behaviors, evidence has demonstrated that neuropsychology and neuroimages may be useful endophenotypes for autism. Dlgap2, Fbxo25, and Arhgef10 knoutout mice generated from our previous CNV results will be characterized.

Inclusion criteria

• Autism

Links

• ictrp
• nct