Document Details

Document Type : Article In Journal 
Document Title :
Comprehensive molecular testing in patients with high functioning autism spectrum disorder
Comprehensive molecular testing in patients with high functioning autism spectrum disorder
 
Document Language : English 
Abstract : 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. 
ISSN : 1873-135X 
Journal Name : Mutat Res 
Volume : 784 
Issue Number : 1 
Publishing Year : 1437 AH
2016 AD 
Article Type : Article 
Added Date : Monday, May 2, 2016 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Maria Isabel Alvarez-MoraAlvarez-Mora, Maria IsabelResearcher misabel_alvarez@hotmail.com
Rosa Calvo EscalonaEscalona, Rosa CalvoResearcher rcalvo@clinic.ub.es
Olga Puig NavarroNavarro, Olga PuigResearcher opuig@clinic.cat
Irene MadrigalMadrigal, Irene Researcher imadbajo@clinic.ub.es
Ines QuintelaQuintela, Ines Researcher ines.quintela@usc.es
Jorge AmigoAmigo, Jorge Researcher jorge.amigo@usc.es
Dei Martinez-ElurbeMartinez-Elurbe, Dei Researcher deielurbe@gmail.com
Michaela Linder-LuchtLinder-Lucht, Michaela Researcher MLinder@parcdesalutmar.cat
Gemma Aznar LainLain, Gemma AznarResearcher GAznar@parcdesalutmar.cat
Angel CarracedoCarracedo, Angel Researcher angel.carracedo@usc.es
Montserrat MilaMila, Montserrat Researcher mmila@clinic.ub.es
Laia Rodriguez-RevengaRodriguez-Revenga, Laia Researcher lbodi@clinic.ub.es

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