عرض بسيط للتسجيلة

المؤلفShailesh, Harshita
المؤلفGupta, Ishita
المؤلفSif, Said
المؤلفOuhtit, Allal
تاريخ الإتاحة2021-09-01T10:03:29Z
تاريخ النشر2016
اسم المنشورFrontiers in Bioscience - Elite
المصدرScopus
معرّف المصادر الموحدhttp://dx.doi.org/10.2741/776
معرّف المصادر الموحدhttp://hdl.handle.net/10576/22466
الملخصAutism spectrum disorder (ASD) includes a group of neurodevelopmental disorders that affect communication skills, social interaction and intellectual ability. Despite evidence suggesting a strong genetic link with ASD, the genetic determinant remains unclear. Early studies focusing on candidate genes have shown that several genes associated with neuronal synaptic function are involved in development of ASD. Linkage studies have identified several single nucleotide polymorphisms (SNPs) associated with ASD, and genome-wide association studies have implicated several loci, but failed to recognize a single specific locus with strong significance, indicating heterogeneity in ASD genetic determinants. Detection of de novo copy number variations and single nucleotide variants in several ASD probands has confirmed the genetic heterogeneity of the disease. More interestingly, next generation sequencing approaches have recently identified novel candidate genes and several point mutations in sporadic ASDs, thus increasing our knowledge of ASD etiology. The current review summarizes the findings of recent studies using genetic and genomic approaches to understand the underlying molecular mechanisms of ASD.
اللغةen
الناشرFrontiers in Bioscience
الموضوعautism
copy number variation
epigenetics
genetics
human
Review
autism
genetic association study
genetic epigenesis
Autism Spectrum Disorder
DNA Copy Number Variations
Epigenesis, Genetic
Genetic Association Studies
Humans
العنوانTowards understanding the genetics of Autism
النوعArticle Review
الصفحات412-426
رقم العدد3
رقم المجلد8
dc.accessType Open Access


الملفات في هذه التسجيلة

Thumbnail

هذه التسجيلة تظهر في المجموعات التالية

عرض بسيط للتسجيلة