Imprinting in Prader–Willi and Angelman syndromes

Nicholls, Robert D.; Saitoh, Shinji; Horsthemke, Bernhard

doi:10.1016/s0168-9525(98)01432-2

Cited by 484 publications

(415 citation statements)

References 56 publications

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“…It has an estimated prevalence of 1 in 10,000 to 1 in 30,000 births [670]. Approximately 70% of cases are due to a genetic deletion on chromosome 15 (15q11–13), 25% of cases are due to a maternal uniparental disomy of chromosome 15, and the remaining cases result from imprinting defects [671,672]. Although to date there are no preclinical models of PWS that clearly implicate the mesolimbic reward system, a linkage between PWS and reward-processing deficits is suggested by hyperphagia (abnormally increased appetite for and consumption of food) and the high incidence of obesity in affected individuals.…”

Section: Reviewmentioning

confidence: 99%

Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

Dichter

Damiano

Allen

2012

J Neurodevelop Disord

244

202

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This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders), neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette’s syndrome, conduct disorder/oppositional defiant disorder), and genetic syndromes (i.e., Fragile X syndrome, Prader–Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome). We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.

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Section: Reviewmentioning

confidence: 99%

Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

Dichter

Damiano

Allen

2012

J Neurodevelop Disord

244

202

View full text Add to dashboard Cite

show abstract

“…This is the process by which epigenetic marking of the chromosomes occurs in the germline, such that they retain a memory of their parental origin. 10 Buiting et al 36 identified an imprinting centre within chromosome 15q11-13 which regulates chromatin structure, DNA methylation, and gene expression through cis acting elements. This imprinting centre (IC) has a bipartite structure.…”

Section: Genetics Of Angelman Syndromementioning

confidence: 99%

“…Molecular genetic studies have begun to elucidate the role of genes within the 15q11-13 region in the pathophysiology of Angelman syndrome 9 and have also shed light on the more general phenomenon of genomic imprinting. 10 We review the clinical features, natural history, and current management of the condition and summarise the complex genetic mechanisms involved.…”

mentioning

confidence: 99%

Angelman syndrome: a review of clinical and genetic aspects

Laan

Haeringen

Brouwer

1999

Clinical Neurology and Neurosurgery

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“…This region is also notable for imprinting. Deletions in BP2-BP3 are associated with either Prader-Willi syndrome (PWS; paternal) or AS (maternal), depending on parental origin of the affected chromosome [123]. The phenotype is heterogeneous and may include ASD, hypotonia, speech and motor delays, anxiety, emotional lability, and hyperactivity [124].…”

Section: Q11-q13mentioning

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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Imprinting in Prader–Willi and Angelman syndromes

Cited by 484 publications

References 56 publications

Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings

Angelman syndrome: a review of clinical and genetic aspects

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

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