Comprehensive molecular testing in patients with high functioning autism spectrum disorder
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- 作者：Maria Isabel Alvarez-Moraa ; b ; c ; misabel_alvarez@hotmail.com" class="auth_mail" title="E-mail the corresponding author ; Rosa Calvo Escalonad ; rcalvo@clinic.ub.es" class="auth_mail" title="E-mail the corresponding author ; Olga Puig Navarrod ; opuig@clinic.cat" class="auth_mail" title="E-mail the corresponding author ; Irene Madrigala ; b ; c ; imadbajo@clinic.ub.es" class="auth_mail" title="E-mail the corresponding author ; Ines Quintelae ; ines.quintela@usc.es" class="auth_mail" title="E-mail the corresponding author ; Jorge Amigoe ; f ; jorge.amigo@usc.es" class="auth_mail" title="E-mail the corresponding author ; Dei Martinez-Elurbea ; deielurbe@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Michaela Linder-Luchtg ; MLinder@parcdesalutmar.cat" class="auth_mail" title="E-mail the corresponding author ; Gemma Aznar Laing ; h ; GAznar@parcdesalutmar.cat" class="auth_mail" title="E-mail the corresponding author ; Angel Carracedoe ; f ; i ; angel.carracedo@usc.es" class="auth_mail" title="E-mail the corresponding author ; Montserrat Milaa ; b ; c ; mmila@clinic.ub.es" class="auth_mail" title="E-mail the corresponding author ; Laia Rodriguez-Revengaa ; b ; c ; lbodi@clinic.ub.es" class="auth_mail" title="E-mail the corresponding author
- 关键词：ADI-R ; autism diagnosis interview-revised ; ASD ; autism spectrum disorder ; ASSQ ; autism spectrum screening questionnaire ; BAP ; broader autism phenotype ; CGH-array ; comparative genomic hybridization microarrays ; CNV ; copy number variant ; DNA ; deoxyribonucleic acid ; ESP ; exome sequencing project ; GERP ; genomic evolutionary rate profiling ; ID ; intellectual disability ; IQ ; intelligence quotient ; LOH ; loss of heterozygosity ; MAPD ; median absolute pairwise difference ; NGS ; next generation sequencing ; P
- 刊名：Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
- 出版年：2016
- 出版时间：February-March 2016
- 年：2016
- 卷：784-785
- 期：Complete
- 页码：46-52
- 全文大小：515 K
文摘
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Despite the identification of several candidate genes and causative CNVs, the vast majority of ASD cases remain unexplained.
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Massively parallel sequencing identified rare SNVs in 13.63% of the patients.
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Our results underscore the difficulty of the molecular diagnosis of ASD and confirm its genetic heterogeneity.