Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes

Bonati, Maria Teresa; Russo, Silvia; Finelli, Palma; Valsecchi, Maria Rosa; Cogliati, Francesca; Cavalleri, F.; Roberts, Wendy; Elia, Maurizio; Larizza, Lidia

doi:10.1007/s10048-007-0086-0

Cited by 81 publications

(56 citation statements)

References 33 publications

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“…In addition, low IQ may arise because IQ develops in part from neocortical functions, which are relatively reduced when a paternal bias enhances limbic relative to neocortical control. Both AS and BWS associate with excess relative expression of certain paternally expressed genes and an increased risk of characteristics associated with autistic behavior (35,36).…”

Section: Growth Pathologies: Morphology and Behaviormentioning

confidence: 99%

Pathology from evolutionary conflict, with a theory of X chromosome versus autosome conflict over sexually antagonistic traits

Frank

Crespi

2011

Proc. Natl. Acad. Sci. U.S.A.

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Evolutionary conflicts cause opponents to push increasingly hard and in opposite directions on the regulation of traits. One can see only the intermediate outcome from the balance of the exaggerated and opposed forces. Intermediate expression hides the underlying conflict, potentially misleading one to conclude that trait regulation is designed to achieve efficient and robust expression, rather than arising by the precarious resolution of conflict. Perturbation often reveals the underlying nature of evolutionary conflict. Upon mutation or knockout of one side in the conflict, the other previously hidden and exaggerated push on the trait may cause extreme, pathological expression. In this regard, pathology reveals hidden evolutionary design. We first review several evolutionary conflicts between males and females, including conflicts over mating, fertilization, and the growth rate of offspring. Perturbations of these conflicts lead to infertility, misregulated growth, cancer, behavioral abnormalities, and psychiatric diseases. We then turn to antagonism between the sexes over traits present in both males and females. For many traits, the different sexes favor different phenotypic values, and constraints prevent completely distinct expression in the sexes. In this case of sexual antagonism, we present a theory of conflict between X-linked genes and autosomal genes. We suggest that dysregulation of the exaggerated conflicting forces between the X chromosome and the autosomes may be associated with various pathologies caused by extreme expression along the male-female axis. Rapid evolution of conflicting X-linked and autosomal genes may cause divergence between populations and speciation.genomic imprinting | disease risk | intragenomic conflict | human genetics P athologies often arise from perturbations of evolutionary conflict. In conflict between different components of the genome, the opposing genes push in opposite directions on a particular trait, such as sex ratio or offspring growth rate (1). The regulation of such traits under conflict becomes dominated by a balance of opposing forces. This precarious regulatory balance contrasts with the typically supposed design of regulation to achieve efficient and robust expression (2, 3). Mutation or knockout of one side in the conflict leads to the other side dominating expression, often pushing the trait to an extreme in the absence of the opposing force. Extreme expression typically causes pathology.In this paper, we develop the idea of pathology arising from perturbations to evolutionary conflicts. We discuss several examples of evolutionary conflicts, the ways in which conflict may lead to exaggerated opposition of forces on a trait, and the occasional breakdown in the normal balance of opposing forces that leads to pathology. We also present a theory of evolutionary conflict between X-linked and autosomal genes over traits that differ in their consequences for male and female fitness. Perturbations to the Xautosome conflict may lead to pathologies of extreme exp...

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Section: Growth Pathologies: Morphology and Behaviormentioning

confidence: 99%

Pathology from evolutionary conflict, with a theory of X chromosome versus autosome conflict over sexually antagonistic traits

Frank

Crespi

2011

Proc. Natl. Acad. Sci. U.S.A.

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“…Peters et al (2004) reported that individuals with AS and autism are significantly more intellectually impaired than individuals with AS who do not meet criteria for autism. Bonati et al (2007) also reported that individuals with AS with better expressive language skills did not meet ASD or autism criteria on the ADOS or ADI-R. It is therefore possible that the identification of ASD in AS may be influenced by the profound disability associated with the syndrome and the overlap in phenomenology that profound disability has with ASD.…”

Section: Autism Spectrum Disorder In Angelman Syndromementioning

confidence: 99%

The Assessment and Presentation of Autism Spectrum Disorder and Associated Characteristics in Individuals with Severe Intellectual Disability and Genetic Syndromes

Moss

Howlin

Oliver

2012

The Oxford Handbook of Intellectual Disability and Development

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This chapter considers the prevalence and nature of Autism Spectrum Disorders (ASD) and associated symptomatology in the intellectual disability population, with particular focus on three genetically determined syndromes—Fragile X syndrome, Tuberous Sclerosis Complex, and Rett syndrome—that have received particular attention with respect to their association with ASD. It then considers the importance of accurate assessment and diagnosis of ASD in individuals with genetically determined syndromes. It describes the methods and tools available for assessing ASD in individuals with intellectual disability, and explores the appropriateness of these assessments for identifying ASD in individuals with genetically determined syndromes associated with intellectual disability.

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“…AS affects between 1 in 15,000 and 1 in 40,000 individuals [20,21]. Some studies have provided support to indicate that approximately 60% of patients may also be diagnosed with autism [22].…”

Section: Angelman Syndromementioning

confidence: 99%

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

et al. 2015

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Autism spectrum disorder (ASD) is a group of highly genetic neurodevelopmental disorders characterized by language, social, cognitive, and behavioral abnormalities. ASD is a complex disorder with a heterogeneous etiology. The genetic architecture of autism is such that a variety of different rare mutations have been discovered, including rare monogenic conditions that involve autistic symptoms. Also, de novo copy number variants and single nucleotide variants contribute to disease susceptibility. Finally, autosomal recessive loci are contributing to our understanding of inherited factors. We will review the progress that the field has made in the discovery of these rare genetic variants in autism. We argue that mutation discovery of this sort offers an important opportunity to identify neurodevelopmental mechanisms in disease. The hope is that these mechanisms will show some degree of convergence that may be amenable to treatment intervention.

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Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes

Cited by 81 publications

References 33 publications

Pathology from evolutionary conflict, with a theory of X chromosome versus autosome conflict over sexually antagonistic traits

Pathology from evolutionary conflict, with a theory of X chromosome versus autosome conflict over sexually antagonistic traits

The Assessment and Presentation of Autism Spectrum Disorder and Associated Characteristics in Individuals with Severe Intellectual Disability and Genetic Syndromes

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

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