scholarly journals Enrichment of de novo mutations in non-SNP sites in autism spectrum disorders and an empirical test of the neutral DNA model

2019 ◽  
Vol 19 (3) ◽  
pp. 343-355
Author(s):  
Ye Zhang ◽  
Shi Huang
Keyword(s):  
Autism Spectrum Disorders ◽  
De Novo ◽  
Empirical Test ◽  
Autism Spectrum ◽  
De Novo Mutations ◽  
Spectrum Disorders

scholarly journals Enrichment of de novo mutations in non SNP sites in autism spectrum disorders and an empirical test of the neutral DNA model

2017 ◽  
Author(s):  
Ye Zhang ◽  
Shi Huang
Keyword(s):  
Autism Spectrum Disorders ◽  
Genetic Basis ◽  
De Novo ◽  
Empirical Test ◽  
Neutral Theory ◽  
Normal Subjects ◽  
Autism Spectrum ◽  
De Novo Mutations ◽  
Reference Allele ◽  
Spectrum Disorders

AbstractThe genetic basis of autism spectrum disorders (ASD) remains better understood and might concern only a small fraction of the genome if the neutral theory were true. We here analyzed published de novo mutations (DNMs) in ASD and controls. We found that DNMs in normal subjects occurred at positions bearing SNPs at least 3.45 fold more frequent than expected from the neutral theory, whereas DNMs in ASD were less frequent relative to those in controls, especially so for common SNPs with minor allele frequency >0.01. Among sites bearing both SNPs and DNMs, DNMs in controls occurred significantly more frequent than DNMs in ASD at reference allele sites bearing C or G nucleotides, indicating depletion of ASD associated DNMs in known regions of hypermutability or less functional constraints such as CpG sites. We also analyzed the nucleotide compositions of DNMs and the parity (1:1 ratio) of pyrimidines and purines. We found that DNMs in ASD showed overall lower AT content than that in controls. Parity violations and AT bias in DNMs occurred at expected frequency based on chance in both ASD and controls. These results show enrichment of DNMs at positions bearing SNP sites and C or G sites in normal subjects and less so in ASD, which is not expected from the neutral model, and indicate that DNMs are on average more deleterious in ASD than in controls.

scholarly journals CACNA1D De Novo Mutations in Autism Spectrum Disorders Activate Cav1.3 L-Type Calcium Channels

2015 ◽  
Vol 77 (9) ◽  
pp. 816-822 ◽  
Author(s):  
Alexandra Pinggera ◽  
Andreas Lieb ◽  
Bruno Benedetti ◽  
Michaela Lampert ◽  
Stefania Monteleone ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Calcium Channels ◽  
De Novo ◽  
Autism Spectrum ◽  
De Novo Mutations ◽  
Spectrum Disorders

scholarly journals Patterns and rates of exonic de novo mutations in autism spectrum disorders

Nature ◽  
2012 ◽  
Vol 485 (7397) ◽  
pp. 242-245 ◽  
Author(s):  
Benjamin M. Neale ◽  
Yan Kou ◽  
Li Liu ◽  
Avi Ma’ayan ◽  
Kaitlin E. Samocha ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
De Novo ◽  
Autism Spectrum ◽  
De Novo Mutations ◽  
Spectrum Disorders

scholarly journals Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

2012 ◽  
Vol 44 (4) ◽  
pp. 471-471 ◽  
Author(s):  
Brian J O'Roak ◽  
Pelagia Deriziotis ◽  
Choli Lee ◽  
Laura Vives ◽  
Jerrod J Schwartz ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Exome Sequencing ◽  
De Novo ◽  
Autism Spectrum ◽  
De Novo Mutations ◽  
Spectrum Disorders

scholarly journals Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

2011 ◽  
Vol 43 (6) ◽  
pp. 585-589 ◽  
Author(s):  
Brian J O'Roak ◽  
Pelagia Deriziotis ◽  
Choli Lee ◽  
Laura Vives ◽  
Jerrod J Schwartz ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Exome Sequencing ◽  
De Novo ◽  
Autism Spectrum ◽  
De Novo Mutations ◽  
Spectrum Disorders

The role of de novo mutations in the genetics of autism spectrum disorders

2014 ◽  
Vol 15 (2) ◽  
pp. 133-141 ◽  
Author(s):  
Michael Ronemus ◽  
Ivan Iossifov ◽  
Dan Levy ◽  
Michael Wigler
Keyword(s):  
Autism Spectrum Disorders ◽  
De Novo ◽  
Autism Spectrum ◽  
De Novo Mutations ◽  
Spectrum Disorders

scholarly journals Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine

2011 ◽  
Vol 64 (11) ◽  
pp. 1470 ◽  
Author(s):  
Soojin Lim ◽  
Mark Lowry ◽  
Robert M. Strongin
Keyword(s):  
Autism Spectrum Disorders ◽  
Human Urine ◽  
Boronic Acid ◽  
De Novo ◽  
Direct Detection ◽  
Autism Spectrum ◽  
Purine Synthesis ◽  
Adenylosuccinate Lyase ◽  
Adenylosuccinate Lyase Deficiency ◽  
Spectrum Disorders

A rhodamine based boronic acid linearly responds to increasing 5-aminoimidazole-4-carboxamide riboside (AICAr) concentrations in human urine. This method is thus an advance in detecting adenylosuccinate lyase (ADSL) deficiency as AICAr is a model riboside for the ADSL substrates succinyladenosine (S-Ado) and succinylaminoimidazolecarboxamide riboside (SAICAr). ADSL deficiency is a rare but devastating disease of de novo purine synthesis in infants. Its diagnosis is also significant as it is one of the autism spectrum disorders.

scholarly journals High-throughput sequencing of autism spectrum disorders comes of age

2013 ◽  
Vol 95 (4) ◽  
pp. 121-129 ◽  
Author(s):  
MINGBANG WANG ◽  
XIAOMEI FAN ◽  
TAO WANG ◽  
JINYU WU
Keyword(s):  
Autism Spectrum Disorders ◽  
High Throughput ◽  
High Throughput Sequencing ◽  
De Novo ◽  
Autism Spectrum ◽  
Disease Gene Discovery ◽  
The Usa ◽  
High Heritability ◽  
Spectrum Disorders ◽  
Promising Perspective

SummaryAutism spectrum disorders (ASDs) are lifelong neurodevelopmental disabilities that affect 1 in 88 children in the USA. Despite the high heritability, the genetic basis for a majority of the ASDs remains elusive. The considerable clinical and genetic heterogeneity pose a significant challenge technically. State-of-the-art high-throughput sequencing (HTS), which makes the analyses of any specific single/multiple genes or whole exomes feasible, has shown a promising perspective in disease gene discovery. To date, numerous genetic studies using HTS have been reported and many rare inherited or de novo mutations have been identified. This review will focus on the progress and prospective of genome studies of ASDs using HTS.

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