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

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...

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Detalles Bibliográficos
Autores principales: Nemirovsky, Sergio I., Ogara, Maria Florencia, Pecci, Adali, Martí, Marcelo Adrián, Vazquez, Martín Pablo, Turjanski, Adrián Gustavo
Publicado: 2015
Materias:
cytosine
nerve protein
SHANK3 protein, human
Article
autism
bioinformatics
case report
clinical feature
codon
disease severity
epilepsy
exon
family history
family study
gene deletion
gene location
gene mutation
gene sequence
genetic variability
germ line
heterozygosity
human
intellectual impairment
language disability
male
mental deficiency
mental disease
missense mutation
mosaicism
parent
Sanger sequencing
sequence analysis
SHANK3 gene
sibling
stop codon
Whole Genome Sequencing
child
dna mutational analysis
female
genetics
genomics
mutation
nucleotide sequence
pedigree
preschool child
Autism Spectrum Disorder
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
Female
Genomics
Humans
Male
Mosaicism
Mutation
Nerve Tissue Proteins
Pedigree
Siblings
Acceso en línea:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_19326203_v10_n2_p_Nemirovsky
http://hdl.handle.net/20.500.12110/paper_19326203_v10_n2_p_Nemirovsky
Aporte de:
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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