کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2146174 1548315 2016 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Comprehensive molecular testing in patients with high functioning autism spectrum disorder
ترجمه فارسی عنوان
آزمایش جامع مولکولی در بیماران مبتلا به اختلال عملکرد طیف اوتیسم بالا
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی تحقیقات سرطان
چکیده انگلیسی


• Despite the identification of several candidate genes and causative CNVs, the vast majority of ASD cases remain unexplained.
• Massively parallel sequencing identified rare SNVs in 13.63% of the patients.
• Our results underscore the difficulty of the molecular diagnosis of ASD and confirm its genetic heterogeneity.

Autism spectrum disorders (ASD) include a range of complex neurodevelopmental disorders with extreme genetic heterogeneity. Exome and target sequencing studies have shown to be an effective tool for the discovery of new ASD genes. The aim of this study was to design an ASD candidate gene panel that covers 44 of the top ASD candidate genes. As a pilot study we performed comprehensive molecular diagnostic testing, including the study of the FMR1 and FMR2 repeat regions, copy number variant analysis in a collection of 50 Spanish ASD cases and mutation screening using targeted next generation sequencing-based techniques in 44 out of the total cohort. We evaluated and clinically selected our cohort, with most of the cases having high functioning ASD without facial dysmorphic features. The results of the present study allowed the detection of copy number and single nucleotide variants not yet identified. In addition, our results underscore the difficulty of the molecular diagnosis of ASD and confirm its genetic heterogeneity. The information gained from this and other genetic screenings is necessary to unravel the clinical interpretation of novel variants.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis - Volumes 784–785, February–March 2016, Pages 46–52
نویسندگان
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