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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 255 - 264 (10page)
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초록· 키워드
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Autism spectrum disorders (ASD) is characterized by three core symptoms with impaired reciprocal social interaction and communication, a pattern of repetitive behavior and/or restricted interests in early childhood. The prevalence is higher in male children than in female children. As a complex neurodevelopmental disorder, the phenotype and severity of autism are extremely heterogeneous with differences from one patient to another. Genetics has a key role in the etiology of autism. Environmental factors are also interacting with the genetic profile and cause abnormal changes in neuronal development, brain growth, and functional connectivity. The term of exome represents less than 1% of the human genome, but contains 85% of known disease-causing variants. Whole-exome sequencing (WES) is an application of the next generation sequencing technology to determine the variations of all coding regions, or exons of known genes. For this reason, WES has been extensively used for clinical studies in the recent years. WES has achieved great success in the past years for identifying Mendelian disease genes. This review evaluates the potential of current findings in ASD for application in next generation sequencing technology, particularly WES. WES and whole-genome sequencing (WGS) approaches may lead to the discovery of underlying genetic factors for ASD and may thereby identify novel therapeutic targets for this disorder.
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등록된 정보가 없습니다.
참고문헌 (71)
참고문헌 신청
Devlin B / 2012 / Genetic architecture in autism spectrum disorder / Curr Opin Genet Dev 22:229~237
Siniscalco D / 2013 / Epigenetic findings in autism : new perspectives for therapy / Int J Environ Res Public Health 10:4261~4273
Chung BH / 2014 / Copy number variation and autism : new insights and clinical implications / J Formos Med Assoc 113:400~408
Sener EF / 2014 / MTHFR gene C677T polymorphism in autism spectrum disorders / Genet Res Int 2014:698574
Srivastava AK / 2014 / Intellectual disability and autism spectrum disorders : causal genes and molecular mechanisms / Neurosci Biobehav Rev 46:161~174
Siniscalco D / 2013 / Epigenetic findings in autism : new perspectives for therapy / Int J Environ Res Public Health 10:4261~4273
Chung BH / 2014 / Copy number variation and autism : new insights and clinical implications / J Formos Med Assoc 113:400~408
Sener EF / 2014 / MTHFR gene C677T polymorphism in autism spectrum disorders / Genet Res Int 2014:698574
Srivastava AK / 2014 / Intellectual disability and autism spectrum disorders : causal genes and molecular mechanisms / Neurosci Biobehav Rev 46:161~174
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