TY - JOUR
T1 - Comprehensive molecular testing in patients with high functioning autism spectrum disorder
AU - Alvarez-Mora, Maria Isabel
AU - Calvo Escalona, Rosa
AU - Puig Navarro, Olga
AU - Madrigal, Irene
AU - Quintela, Ines
AU - Amigo, Jorge
AU - Martinez-Elurbe, Dei
AU - Linder-Lucht, Michaela
AU - Aznar Lain, Gemma
AU - Carracedo, Angel
AU - Mila, Montserrat
AU - Rodriguez-Revenga, Laia
PY - 2016/2/1
Y1 - 2016/2/1
N2 - © 2016 Elsevier B.V. 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.
AB - © 2016 Elsevier B.V. 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.
KW - Autism spectrum disorders
KW - Candidate genes
KW - Copy number variants
KW - Next generation sequencing
KW - Single nucleotide variants
UR - https://www.scopus.com/pages/publications/84956608209
U2 - 10.1016/j.mrfmmm.2015.12.006
DO - 10.1016/j.mrfmmm.2015.12.006
M3 - Article
SN - 0027-5107
VL - 784-785
SP - 46
EP - 52
JO - Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
JF - Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
ER -