کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4354203 1299027 2014 11 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A de novo convergence of autism genetics and molecular neuroscience
ترجمه فارسی عنوان
یک همگرایی جدید از ژنتیک اوتیسم و ​​علوم اعصاب مولکولی
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب (عمومی)
چکیده انگلیسی


• Exome sequencing has identified rare mutations and novel genes in ASD and ID cases.
• Targeted resequencing has confirmed association for several novel genes.
• Results from exome sequencing of 1058 families suggests a convergence of functional pathways.
• We review genetic and neurobiological evidence for chromatin, wnt, and synaptic function pathways.

Autism spectrum disorder (ASD) and intellectual disability (ID) are neurodevelopmental disorders with large genetic components, but identification of pathogenic genes has proceeded slowly because hundreds of loci are involved. New exome sequencing technology has identified novel rare variants and has found that sporadic cases of ASD/ID are enriched for disruptive de novo mutations. Targeted large-scale resequencing studies have confirmed the significance of specific loci, including chromodomain helicase DNA binding protein 8 (CHD8), sodium channel, voltage-gated, type II, alpha subunit (SCN2A), dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A), and catenin (cadherin-associated protein), beta 1, 88 kDa (CTNNB1, beta-catenin). We review recent studies and suggest that they have led to a convergence on three functional pathways: (i) chromatin remodeling; (ii) wnt signaling during development; and (iii) synaptic function. These pathways and genes significantly expand the neurobiological targets for study, and suggest a path for future genetic and functional studies.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: - Volume 37, Issue 2, February 2014, Pages 95–105
نویسندگان
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