scholarly journals Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

2012 ◽  
Vol 2 (10) ◽  
pp. e179-e179 ◽  
Author(s):  
C Nava ◽  
F Lamari ◽  
D Héron ◽  
C Mignot ◽  
A Rastetter ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Candidate Genes ◽  
Autism Spectrum ◽  
Chromosome X ◽  
Spectrum Disorders

scholarly journals Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

2021 ◽  
Author(s):  
Paul C Marcogliese ◽  
Samantha L Deal ◽  
Jonathan Andrews ◽  
J Michael Harnish ◽  
V Hemanjani Bhavana ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Candidate Genes ◽  
De Novo ◽  
Functional Characterization ◽  
Gene Discovery ◽  
Autism Spectrum ◽  
Functional Screening ◽  
Simons Simplex Collection ◽  
Spectrum Disorders

Abstract:Individuals with autism spectrum disorders (ASD) exhibit an increased burden of de novo variants in a broadening range of genes. We functionally tested the effects of ASD missense variants using Drosophila through ‘humanization’ rescue and overexpression-based strategies. We studied 79 ASD variants in 74 genes identified in the Simons Simplex Collection and found 38% of them caused functional alterations. Moreover, we identified GLRA2 as the cause of a spectrum of neurodevelopmental phenotypes beyond ASD in eight previously undiagnosed subjects. Functional characterization of variants in ASD candidate genes point to conserved neurobiological mechanisms and facilitates gene discovery for rare neurodevelopmental diseases.

Fetal DNA methylation of autism spectrum disorders candidate genes: association with spontaneous preterm birth

2015 ◽  
Vol 212 (4) ◽  
pp. 533.e1-533.e9 ◽  
Author(s):  
Fara Behnia ◽  
Sasha E. Parets ◽  
Talar Kechichian ◽  
Huaizhi Yin ◽  
Eryn H. Dutta ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Autism Spectrum Disorders ◽  
Preterm Birth ◽  
Candidate Genes ◽  
Autism Spectrum ◽  
Spontaneous Preterm Birth ◽  
Fetal Dna ◽  
Spectrum Disorders

scholarly journals Family paracentric inversion of the short arm of chromosome X (Xp21.2p11.23) and connection with autism spectrum disorders

2012 ◽  
Vol 140 (11-12) ◽  
pp. 760-764 ◽  
Author(s):  
Milica Pejovic-Milovancevic ◽  
Marija Vesic ◽  
Marko Jelisavcic ◽  
Snezana Niksic ◽  
Gordana Radivojevic-Pilic ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Cytogenetic Analysis ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Clinical Signs ◽  
Autism Spectrum ◽  
Paracentric Inversion ◽  
Chromosome X ◽  
Spectrum Disorders ◽  
Genetic And Environmental Factors

Introduction. Autism spectrum disorders (ASDs) are a group of complex pervasive developmental disorders characterized by impairments in communication, social interaction and behavior. In most cases autism is caused by a combination of genetic factors and environmental risk factors. In 10% to 20% of cases it has been shown that the cause of ASD is genetic. Case Outline. We are describing a 2-year-old boy who was referred to genetic counseling because of speech delay and certain autism-like behavior. By cytogenetic analysis the karyotype 46, inv(X),Y was obtained. The boy was a carrier of a paracentric inversion of the short arm of the chromosome X. After cytogenetic analysis of parental blood, it was detected that mother was a carrier of identical aberration, but had no clinical signs. The method of fluorescent in situ hybridization (FISH) yielded the precise breakpoint in the region (p21.2p11.23). Mother and son were carriers of identical X chromosome. Conclusion. Breakpoints are located in the regions that have already been linked to autism, which indicates that the positional effect of the gene could have been a possible cause of the patient?s genotype. In addition to positional effects, in order to better understand the etiology of autism other genetic and environmental factors should be always taken into consideration.

scholarly journals Identification of rare copy number variations reveals PJA2 , APCS , SYNPO , and TAC1 as novel candidate genes in Autism Spectrum Disorders

2019 ◽  
Vol 7 (8) ◽  
Author(s):  
Tania Bitar ◽  
Walid Hleihel ◽  
Sylviane Marouillat ◽  
Sandrine Vonwill ◽  
Marie‐Laure Vuillaume ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Candidate Genes ◽  
Copy Number ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Spectrum Disorders

Disfluency Characteristics Observed in Young Children With Autism Spectrum Disorders: A Preliminary Report

2010 ◽  
Vol 20 (2) ◽  
pp. 42-50 ◽  
Author(s):  
Laura W. Plexico ◽  
Julie E. Cleary ◽  
Ashlynn McAlpine ◽  
Allison M. Plumb
Keyword(s):  
Autism Spectrum Disorders ◽  
Young Children ◽  
Children With Autism ◽  
Descriptive Study ◽  
Autism Spectrum ◽  
Typically Developing ◽  
Children With Asd ◽  
Young Children With Autism ◽  
Spectrum Disorders ◽  
Developmental Stuttering

This descriptive study evaluates the speech disfluencies of 8 verbal children between 3 and 5 years of age with autism spectrum disorders (ASD). Speech samples were collected for each child during standardized interactions. Percentage and types of disfluencies observed during speech samples are discussed. Although they did not have a clinical diagnosis of stuttering, all of the young children with ASD in this study produced disfluencies. In addition to stuttering-like disfluencies and other typical disfluencies, the children with ASD also produced atypical disfluencies, which usually are not observed in children with typically developing speech or developmental stuttering. (Yairi & Ambrose, 2005).

Sign in / Sign up

Export Citation Format

Share Document