Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder

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. We identi...

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Veröffentlicht in:	PloS one 2015-02, Vol.10 (2), p.e0116358-e0116358
Hauptverfasser:	Nemirovsky, Sergio I, Córdoba, Marta, Zaiat, Jonathan J, Completa, Sabrina P, Vega, Patricia A, González-Morón, Dolores, Medina, Nancy M, Fabbro, Mónica, Romero, Soledad, Brun, Bianca, Revale, Santiago, Ogara, María Florencia, Pecci, Adali, Marti, Marcelo, Vazquez, Martin, Turjanski, Adrián, Kauffman, Marcelo A
Format:	Artikel
Sprache:	eng
Schlagworte:	Acids Analysis Autism Autism Spectrum Disorder - genetics Base Sequence Child Child, Preschool Codons Cytosine Diagnostic systems Disorders DNA Mutational Analysis DNA sequencing Epilepsy Etiology Female Gene deletion Gene sequencing Genetic aspects Genetics Genomes Genomics Humans Identification methods Intellectual disabilities Language Male Mental disorders Mosaicism Mutation Nerve Tissue Proteins - genetics Nonsense mutation Parents Pedigree Proteins Siblings Stop codon
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