Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
نویسندگان
چکیده
منابع مشابه
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 ASD. METHODS We identified a family segregating ASD in three siblings with an unidentified cause...
متن کاملGenome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort
Autism spectrum disorder (ASD) describes a group of neurodevelopmental disorders with high heritability, although the underlying genetic determinants of ASDs remain largely unknown. Large-scale whole-genome studies of copy number variation in Han Chinese samples are still lacking. We performed a genome-wide copy number variation analysis of 343 ASD trios, 203 patients with sporadic cases and 98...
متن کاملGenome-Wide Association Studies of Copy Number Variation in Autism Spectrum Disorder
Autism is a syndrome with a broad spectrum of phenotypes characterized by deficits in social interaction and communication, repetitive or stereotyped behaviors, and restricted interests (Rutter, 2005). Autism spectrum disorder (ASD) manifests mostly before 3 years of age (Klauck, 2006). ASDs include two related diagnoses; pervasive developmental disorder (PDD) including atypical autism, impairm...
متن کاملComparison of Motor Skills in At-risk with Autism Spectrum Disorder Children with Autism Spectrum Disorder and Typical Development Children
Background: Autism Spectrum Disorder (ASD) is a complex developmental disorder characterized by repetitive and stereotypical patterns, and difficulties with social communication and interaction in early childhood. Motor development and dysfunction in children with ASD has been the subject of study in recent years and has attracted much of the attention of researchers. As motor dysfunctions can ...
متن کاملDe Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism.
The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region 7p21.1p22.2 in a three-year-old male child with autism who presented to the Sultan Qaboos University Hospital in Muscat, Oman, in January 2012. The patient was diagnosed with craniofacia...
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ژورنال
عنوان ژورنال: Science
سال: 2018
ISSN: 0036-8075,1095-9203
DOI: 10.1126/science.aat6576