Chromosomal abnormalities in a clinic sample of individuals with autistic disorder

Wassink, Thomas H.; Piven, Joseph; Patil, Shivanand R.

doi:10.1097/00041444-200106000-00001

Cited by 141 publications

(85 citation statements)

References 56 publications

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“…56,57 About 2-5% of the children and adolescents diagnosed with AD carry a full FRAXA mutation or FRAXA mosaics. 9,13,16,58 Despite this finding, no linkage or association with FMR1 gene variants 59,60 or the FRAXA mutation has been found in large samples diagnosed with AD by strict criteria. 61,62 As the diagnosis of FRAXA, however, has major implications for genetic counselling, it should be ruled out in all individuals with AD and mildto-severe mental retardation.…”

Section: Single Gene Disorders Associated With Admentioning

confidence: 94%

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The genetics of autistic disorders and its clinical relevance: a review of the literature

2006

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Twin and family studies in autistic disorders (AD) have elucidated a high heritability of the narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially delineate the phenotype of AD and discuss aspects of differential diagnosis, which are particularly relevant with regard to the genetics of autism. Cytogenetic and molecular genetic studies will be presented in detail, and the possibly involved aetiopathological pathways will be described. Implications of the different genetic findings for genetic counselling will be mentioned.

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Section: Single Gene Disorders Associated With Admentioning

confidence: 94%

“…[13][14][15][16][17] Cytogenetic abnormalities have been described with regard to most chromosomes. 11,12 Recent studies have aimed to elicit candidate genes or candidate gene regions by a detailed analysis of the boundaries of the cytogenetic abnormalities found in AD.…”

Section: Cytogenetic Findings and Genetic Syndromes In Admentioning

confidence: 99%

The genetics of autistic disorders and its clinical relevance: a review of the literature

2006

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“…Chromosome 15 has also been implicated in autism, 111 a disorder in which compulsive features have also been described. The most common chromosomal abnormality reported to be associated with autism is a duplication of the 15q11-13 regions, although deletions have also been described.…”

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confidence: 99%

Obsessive-compulsive disorder phenotypes: implications for genetic studies

et al. 2004

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Obsessive-compulsive disorder (OCD) clinical presentation is remarkably diverse, and can vary both within and across patients over time. This variability in the phenotypic expression has led to the hypothesis that OCD is a heterogeneous disorder and that this heterogeneity obscures the findings of clinical, natural history and treatment response studies and complicates the search for vulnerability genes. A complete understanding of what comprises OCD and the underlying etiological mechanisms will require a dramatic change in how the disorder is conceptualized. In this review, several different approaches that may represent the first steps in this reconceptualization are discussed. These approaches include (1) narrowing the phenotype to identify categorically defined more homogeneous and mutually exclusive subtypes of OCD, (2) considering OC symptom dimensions as quantitative components of the more complex OCD phenotype and (3) broadening the phenotype to include other etiologically related conditions. A combined dimensional approach within distinctive subgroups is proposed as probably the most effective in helping to identify the heritable components of OCD. By identifying heritable components of OCD, it should be possible to find genes for these separate components. The review continues with the illustration of the possible role of some epigenetic risk and protective factors in the OCD presentation and the relevance of examining associated traits and/or endophenotypes to enhance our ability to understand the genetic basis of OCD. To conclude, we discuss the variability in treatment outcome and the significance of the development of specific pharmacological and/or behavioral based therapies tailored to each of these phenotypes. Molecular Psychiatry (2005) 10, 258-275.

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“…1 Evidence for the role of genes in the development of autism includes high heritability estimates, 2 a high sibling risk compared to the general population, 3 and chromosomal anomalies reported in individuals with the disorder. 4 Overlapping regions of suggestive linkage have been reported in more than two studies on chromosomes 1, 2q, 3q, 7q, 16p, 17q and Xq, [5][6][7][8][9][10][11] but no genes have been conclusively identified yet. 12 Several factors, such as phenotypic and genetic heterogeneity, and multiple interacting genes, have been postulated to complicate the identification of autism loci leading to inconsistent results.…”

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confidence: 99%

Quantitative genome scan and Ordered-Subsets Analysis of autism endophenotypes support language QTLs

et al. 2005

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Autism is a neurodevelopmental syndrome with early childhood onset and deficits in three behavioral and cognitive dimensions: language, social skills and repetitive or restrictive behaviors. We hypothesized that using these endophenotypes would provide more power to detect linkage than the diagnosis of autism. Previously, we reported results for a nonparametric quantitative trait locus (QTL) genome scan in 152 families with autism, which revealed a linkage peak related to spoken language on 7q35. Here, we present the results of a nonparametric QTL scan of autism endophenotypes in 291 multiplex families, including the original 152. The strongest evidence for an 'age at first word' QTL was on chromosomes 3q at 147 cM (Z ¼ 3.10, Po0.001), and 17q at 93 cM (Z ¼ 2.84, P ¼ 0.002), both represent novel susceptibility loci for autism endophenotypes. There was also support for a previously identified autism peak on chromosome 17 at 43 cM (Z ¼ 2.22, P ¼ 0.013) with 'age at first phrase'. The 7q35 language peak was attenuated (Z ¼ 2.05, P ¼ 0.02) compared with the original finding. To explore the possibility of increased heterogeneity resulting from the addition of 135 families to the sample, we conducted an Ordered-Subsets Analysis on chromosome 7; these results suggest that the 132 autism families with the earliest average age at first word are responsible for the QTL on 7q35. This locus on 7q35 may harbor a gene contributing variability in spoken language that is not uniquely related to language delay in autism. Molecular Psychiatry (2005) 10, 747-757.

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Chromosomal abnormalities in a clinic sample of individuals with autistic disorder

Cited by 141 publications

References 56 publications

The genetics of autistic disorders and its clinical relevance: a review of the literature

The genetics of autistic disorders and its clinical relevance: a review of the literature

Obsessive-compulsive disorder phenotypes: implications for genetic studies

Quantitative genome scan and Ordered-Subsets Analysis of autism endophenotypes support language QTLs

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