Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders

  title={Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders},
  author={Patrick F. Bolton and Marijcke W. M. Veltman and Emma J. Weisblatt and Joanne R Holmes and N Simon Thomas and Sheila A Youings and Russell J Thompson and Si{\^a}n E. Roberts and Nicholas Robert Dennis and Caroline E. Browne and Sally Goodson and Vanessa Moore and Josie Brown},
  journal={Psychiatric Genetics},
Objectives The frequency of abnormalities of 15q11-q13 and other possibly causal medical disorders including karyotypic abnormalities was investigated in an unselected series of children who were referred to one of two autism assessment centres. Methods Two hundred and twenty-one cases were assessed using the Autism Diagnostic Interview and Observation Schedule and, where appropriate, standardized tests of intelligence and language abilities. Medical histories and notes were reviewed, and… 

Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy

The results suggest that when interpreting the NGS results in the clinical setting, careful observation of VOUS with some pathological evidence might contribute to the discovery of genetic pathogenesis of neurodevelopmental disorders such as ASD and epilepsy.

Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome

The relative strength observed in social interest and responsiveness in the context of impaired motor skills represents an important avenue for intervention, including aggressive treatment of epilepsy, early and consistent focus on motor skills, and intervention targeting joint attention and language within a play context.

Medical conditions in autism spectrum disorders

  • P. Bolton
  • Medicine, Biology
    Journal of Neurodevelopmental Disorders
  • 2009
Investigations into the causal mechanisms underlying the association between conditions such as tuberous sclerosis, Fragile X and chromosome 15 abnormalities are beginning to cast light on the molecular and neurobiological pathways involved in the pathophysiology of ASD.

Copy number variation findings among 50 children and adolescents with autism spectrum disorder

Nine copy number variations (CNVs) with predicted clinical significance for Autism spectrum disorders were identified among eight individuals, suggesting clinical significance and the causal relationship between identified CNVs and the ASD phenotype is not fully established.

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly

The findings suggest that Sotos Syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.

Autoimmune Disorder and Autism

Current diagnosis criteria of these disorders are based on behavior tests, no single biomarker has been clinically accepted, which mainly due to the difficulties for studying cellular and molecular etiology of ASD means that the prevalence of ASD is relatively low therefore sample sizes are usually too small for statistical analysis.

Differences Between the Pattern of Developmental Abnormalities in Autism Associated With Duplications 15q11.2-q13 and Idiopathic Autism

The different spectrum and higher prevalence of developmental neuropathologic findings in the dup(15) cohort than in cases with idiopathic autism may contribute to the high risk of early onset of seizures and sudden death.



Chromosomal abnormalities in a clinic sample of individuals with autistic disorder

Data from the largest reported sample of autistic individuals who have been karyotyped support the contribution of chromosomal abnormalities to a small but significant number of cases of autism, and highlight the involvement of chromosome 15 and the sex chromosomes.

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

The findings indicate that duplications in the PWACR give rise to developmental delay but not necessarily autism spectrum disorders and suggest that phenotypic expression is dependent on the parental origin of the duplication and implicate maternally active genes in the pathogenesis of the developmental impairments.

Autism and maternally derived aberrations of chromosome 15q.

Among the first 100 cases enrolled in the South Carolina Autism Project, abnormalities of chromosome 15 have emerged as the single most common cause and four abnormalities identified include deletions and duplications of proximal 15q, which occurred on the chromosome inherited from the mother.

Chromosomal Abnormalities in a Series of Children with Autistic Disorder

Results are consistent with the view of variability of expression of marker chromosome deviations and a greater severity of retardation and symptoms of autism in those affected.

Molecular screening for proximal 15q abnormalities in a mentally retarded population.

All cases had a phenotype consistent with Angelman syndrome as expected for the level of mental retardation, but the subject with UPD was distinct from the other subjects with an absence of a history of seizures and presence of bilateral undescended testes and Parkinsonism.

Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers.

Use of the multiallelic transmission-disequilibrium test (MTDT), for nine loci on 15q11-13, revealed linkage disequilibrium between autistic disorder and a marker in the gamma-aminobutyric acidA receptor subunit gene, GABRB3 155CA-2, suggesting the need for further investigation of the role of GAB RB3 or adjacent genes in autistic disorder.

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

Microsatellite and methylation analyses of the pedigree in the following report show that, among three children, the two with autism or atypical autism have maternal inheritance of a 15q11-q13 duplication whereas the third child, who is unaffected, did not inherit this duplication.

Genetic studies in autistic disorder and chromosome 15

Evidence is found in support of linkage to the 15q11-q13 region, as well as evidence of increased recombination in this region, which provides further support for the involvement of chromosome 15q 11-q 13 in the genetic etiology of AD.

Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients.

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.

This work screened the families of the Collaborative Linkage Study of Autism for several markers spanning a candidate region covering approximately 2 Mb and including the Angelman syndrome gene (UBE3A) and a cluster of gamma-aminobutyric acid and receptor subunit genes and found significant evidence for linkage disequilibrium at marker D15S122, located at the 5' end of UBE3A.