Autism and maternally derived aberrations of chromosome 15q.

@article{Schroer1998AutismAM,
  title={Autism and maternally derived aberrations of chromosome 15q.},
  author={Richard J. Schroer and Mary C. Phelan and Ron C. Michaelis and Eric Crawford and Steven A Skinner and Michael Cuccaro and Richard J. Simensen and J Bishop and Cindy D. Skinner and Don Fender and Roger E. Stevenson},
  journal={American journal of medical genetics},
  year={1998},
  volume={76 4},
  pages={
          327-36
        }
}
Of the chronic mental disabilities of childhood, autism is causally least well understood. The former view that autism was rooted in exposure to humorless and perfectionistic parenting has given way to the notion that genetic influences are dominant underlying factors. Still, identification of specific heritable factors has been slow with causes identified in only a few cases in unselected series. A broad search for genetic and environmental influences that cause or predispose to autism is the… 

Figures and Tables from this paper

Autism and cytogenetic abnormalities: Solving autism one chromosome at a time
TLDR
Powerful new methods for identifying novel regions of the genome causing or contributing to autism also will be discussed and will start to explain the etiology for some percentage of the remaining 85% to 90% of autism cases.
Molecular Cytogenetics of Autism
TLDR
It is hypothesized that there might be at least three types of autism susceptibility genes/mutations that can be specific to an individual patient or family, in a genetically isolated sub-population and a common factor shared amongst different populations.
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
Characterization of an Autism-Associated Segmental Maternal Heterodisomy of the Chromosome 15q11–13 Region
TLDR
The hypothesis that additional copies of this chromosome segment are causally related to autism is reinforced as a 6-year-old girl diagnosed with autism, developmental delay, and delayed expressive and receptive language is described.
An autosomal genomic screen for autism.
TLDR
The strongest multipoint results were for regions on chromosomes 13 and 7, and the highest maximum multipoint heterogeneity LOD (MMLS/het) score is 3.0 at D13S800 under the recessive model.
Sub-microscopic chromosomal imbalances in idiopathic autism spectrum disorder (ASD)
TLDR
In this study, nineteen probands with a confirmed diagnosis of nonsyndromic ASD and additional complex phenotypic features with normal karyotype/Fragile X screening were evaluated for submicroscopic genomic imbalances using a commercially available 1Mb BAC microarray platform (Spectral Genomics).
Pilot assessment of the subtelomeric regions of children with autism: Detection of a 2q deletion
TLDR
It may be that the distal region of chromosome 2q harbors a gene or genes that may predispose to autism, and this pilot project screens for aberrations in the gene-rich subtelomeric chromosomal regions of a cohort of children with autism.
Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder
  • K. Reddy
  • Medicine, Psychology
    BMC Medical Genetics
  • 2004
TLDR
Twenty-eight percent of chromosome abnormalities detected in the study were subtle; therefore a high resolution cytogenetic study with a scrutiny of 15q11.2q13, 2q37 and Xp23 region should be standard practice when the indication is autism.
15q Duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array‐CGH
TLDR
The findings suggest that the gain of 15q in autism may in some cases be due to cryptic translocations with breakpoints in the pericentromic regions of chromosome 15 and a different acrocentric chromosome.
The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.
TLDR
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.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 88 REFERENCES
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.
TLDR
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 influences in autism.
  • S. Smalley
  • Psychology
    The Psychiatric clinics of North America
  • 1991
Etiology of autism: genetic influences.
TLDR
There is ample evidence for a higher genetic liability to autism in siblings of autistic probands than expected from the population prevalence and genetic analyses and genetic linkage studies will need to consider using a broader definition of the autism phenotype to include not only autism but severe cognitive and social deficits.
UBE3A/E6-AP mutations cause Angelman syndrome
TLDR
It is demonstrated that UBE3A mutations are one cause of AS and indicate a possible abnormality in ubiquitin-mediated protein degradation during brain development in this disease.
Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation.
TLDR
The results of this study add to the existing literature which suggests that the clinical phenotype of patients with a supernumerary inv dup(15) chromosome is determined not only by the extent of the duplicated region, but by the dosage of genes located within band 15q13 and the origin of the normal chromosomes 15.
Duplication of the 15q11‐13 Region in a Patient with Autism, Epilepsy and Ataxia
TLDR
The authors report a boy with autism, epilepsy, ataxia and an interstitial duplication of 15q, in whom molecular analysis reveals duplication of the GABRA5 and GABRB3 genes on the maternally derived chromosome.
Cytogenetic survey for autistic fragile X carriers in a mental retardation center.
A cytogenetic survey of 67 individuals previously identified as having mental retardation and autistic behaviors revealed 1 person (1.5%) with the fragile X chromosome (fra[X]) and 3 (4.5%) with
Autism as a strongly genetic disorder: evidence from a British twin study.
TLDR
The findings indicate that autism is under a high degree of genetic control and suggest the involvement of multiple genetic loci.
Preferential maternal derivation in inv dup(15): analysis of eight new cases.
TLDR
The clinical findings confirm that patients with inv dup(15) have mental and developmental retardation and are frequently affected by seizures, while severe physical malformations are absent.
...
1
2
3
4
5
...