Angelman syndrome: a review of the clinical and genetic aspects

Clayton‐Smith, Jill

doi:10.1136/jmg.40.2.87

Cited by 538 publications

(418 citation statements)

References 83 publications

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“…22 Some patients (20%) with a 2q23.1 deletion showed similar behaviour with outbursts of inappropriate laughter. Most patients (53%) had motor developmental delay, poor coordination and a broad-based/ataxic gait.…”

Section: Discussionmentioning

confidence: 99%

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

et al. 2009

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Section: Discussionmentioning

confidence: 99%

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

et al. 2009

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“…Four major genetic mechanisms are known to cause Angelman syndrome: in 70-75% a interstitial deletion of the maternal chromosome 15q11-13; in 2-3% an uniparental disomy (UPD) of chromosome 15q11-13 with lack of the maternal copy; in 3-5% a abnormal methylation of chromosome 15q11-13; and in 20% mutations in the UBE3A gene or in the imprinting centre located on chromosome 15q11-13. 29 PWS is phenotypically characterized by moderate mental retardation, infantile hypotonia and poor suck reflex, growth retardation, delayed sexual development and a childhood onset of pronounced hyperphagia. 30 Major genetic mechanisms in PWS are as follows: in 70-80% interstitial deletions of the paternally derived chromosome 15q11-13; in 20-30% maternal UPD with lack of the paternal copy; and in 1-2% imprinting center mutation.…”

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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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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“…AS, which is characterized by abnormalities in neurological, motor and intellectual functioning, is caused by genetic anomalies involving a cluster of imprinted genes on chromosome 15. These causal anomalies include paternal chromosome 15 uniparental disomy, maternal deletion of the critical region (15q11-13) and mutations in the maternally expressed/paternally imprinted gene UBE3A (Clayton- Smith & Laan 2003). A key characteristic of individuals with AS is their unusually sociable disposition and frequent laughter and smiling, with reduced displays of negative affect signals such as crying and tantrums (Summers et al 1995;Brown & Consedine 2004).…”

Section: The Pre-weaning Period and Mother-offspring Bondingmentioning

confidence: 99%

Genomic imprinting and the social brain

Isles

Davies

Wilkinson

2006

Phil. Trans. R. Soc. B

109

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Genomic imprinting refers to the parent-of-origin-specific epigenetic marking of a number of genes. This epigenetic mark leads to a bias in expression between maternally and paternally inherited imprinted genes, that in some cases results in monoallelic expression from one parental allele. Genomic imprinting is often thought to have evolved as a consequence of the intragenomic conflict between the parental alleles that occurs whenever there is an asymmetry of relatedness. The two main examples of asymmetry of relatedness are when there is partiality of parental investment in offspring (as is the case for placental mammals, where there is also the possibility of extended postnatal care by one parent), and in social groups where there is a sex-biased dispersal. From this evolutionary starting point, it is predicted that, at the behavioural level, imprinted genes will influence what can broadly be termed bonding and social behaviour. We examine the animal and human literature for examples of imprinted genes mediating these behaviours, and divide them into two general classes. Firstly, mother-offspring interactions (suckling, attachment and maternal behaviours) that are predicted to occur when partiality in parental investment in early postnatal offspring occurs; and secondly, adult social interactions, when there is an asymmetry of relatedness in social groups. Finally, we return to the evolutionary theory and examine whether there is a pattern of behavioural functions mediated by imprinted genes emerging from the limited data, and also whether any tangible predictions can be made with regards to the direction of action of genes of maternal or paternal origin.

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Angelman syndrome: a review of the clinical and genetic aspects

Cited by 538 publications

References 83 publications

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

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

Genomic imprinting and the social brain

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