Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder
- Nemirovsky, Sergio Ivan
- Córdoba, Marta
- Zaiat, Jonathan Javier
- Completa, Sabrina P.
- Vega, Patricia
- González Morón, Dolores
- Medina, Nancy
- Fabbro, Mónica
- Romero, Soledad
- Brun, Bianca
- Revale, Santiago
- Ogara, Maria Florencia
- Pecci, Adali
- Marti, Marcelo Adrian
- Vazquez, Martin
- Turjanski, Adrian
- Kauffman, Marcelo Andres
DOIAbstract
Introduction Clinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (WGS) for the diagnostic approach to ASD. Methods We identified a family segregating ASD in three siblings with an unidentified cause. We performed WGS in the three probands and used a state-of-the-art comprehensive bioinformatic analysis pipeline and prioritized the identified variants located in genes likely to be related to ASD. We validated the finding by Sanger sequencing in the probands and their parents. Results Three male siblings presented a syndrome characterized b...
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