Autism and tuberous sclerosis

Smalley, Susan L.; Tanguay, Peter E.; Smith, Moyra; Gutierrez, Griselda

doi:10.1007/bf01048239

Cited by 433 publications

(223 citation statements)

References 71 publications

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“…For example, males with TSC have a greater risk of learning disorders and autism than females with the disease. 21 In addition, sex hormones have been shown to affect the behaviour of cells derived from TSC-associated lesions 22 and in a mouse model of TSC, liver hemangiomas were more common and more extensive in female than in male mice. 23 It will be interesting to investigate in more detail how sex hormones regulate the functions of tuberin and hamartin, and to determine how hormonal changes influence the TSC phenotype.…”

Section: Discussionmentioning

confidence: 99%

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

et al. 2005

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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in multiple organs and tissues. TSC is caused by mutations in either the TSC1 or TSC2 gene. We searched for mutations in both genes in a cohort of 490 patients diagnosed with or suspected of having TSC using a combination of denaturing gradient gel electrophoresis, single-strand conformational polymorphism, direct sequencing, fluorescent in situ hybridisation and Southern blotting. We identified pathogenic mutations in 362 patients, a mutation detection rate of 74%. Of these 362 patients, 276 had a definite clinical diagnosis of TSC and in these patients 235 mutations were identified, a mutation detection rate of 85%. The ratio of TSC2:TSC1 mutations was 3.4:1. In our cohort, both TSC1 mutations and mutations in familial TSC2 cases were associated with phenotypes less severe than de novo TSC2 mutations. Interestingly, consistent with other studies, the phenotypes of the patients in which no mutation was identified were, overall, less severe than those of patients with either a known TSC1 or TSC2 mutation.

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Section: Discussionmentioning

confidence: 99%

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

et al. 2005

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“…TSC is a genetic disease and is caused by mutation of either of two genes, TSC1 or TSC2. ASD is common in TSC patients [35]. Deleting TSC1 has various effects on synaptic transmission including impaired hippocampal mGluR-LTD [36].…”

Section: The Synaptic Theory Of Autismmentioning

confidence: 99%

Shank mutant mice as an animal model of autism

Yoo

Bakes

Bradley

et al. 2014

Phil. Trans. R. Soc. B

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In this review, we focus on the role of the Shank family of proteins in autism. In recent years, autism research has been flourishing. With genetic, molecular, imaging and electrophysiological studies being supported by behavioural studies using animal models, there is real hope that we may soon understand the fundamental pathology of autism. There is also genuine potential to develop a molecular-level pharmacological treatment that may be able to deal with the most severe symptoms of autism, and clinical trials are already underway. The Shank family of proteins has been strongly implicated as a contributing factor in autism in certain individuals and sits at the core of the alleged autistic pathway. Here, we analyse studies that relate Shank to autism and discuss what light this sheds on the possible causes of autism.

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“…The term CHARGE is an acronym for the syndrome's six core features: C, coloboma of the iris/retina; H, heart defects; A, atresia of the choanae; R, retardation of growth/development; G, genital abnormalities; and E, ear abnormalities. Occurring once in every 8500-10,000 live births [42,43], CHARGE syndrome also involves a range of secondary features, including deafness, laryngomalacia, vestibulocochlear defects, facial [80][81][82][83][84][85][86][87] CHARGE = C, coloboma of the iris/retina; H, heart defects; A, atresia of the choanae; R, retardation of growth/development; G, genital abnormalities; and E, ear abnormalities; PI3K = phosphoinositide 3-kinase; AKT = protein kinase B; MAPK = mitogen-activated protein kinase; mTOR = mammalian target of rapamycin nerve palsy, and oral clefts [44][45][46][47]. Many individuals with CHARGE syndrome are reported to exhibit autistic-like behaviors, with an estimated 27.5% meeting classification for autism [45].…”

Section: Charge Syndromementioning

confidence: 99%

“…TSC is associated with a variety of cognitive and developmental deficits, including ID, ADHD, and epilepsy. TSC is estimated to affect as many as 1 in 5800 newborns [82], approximately 40% of whom are diagnosed with ASD [83,84].…”

Section: Tuberous Sclerosis Complexmentioning

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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Autism and tuberous sclerosis

Cited by 433 publications

References 71 publications

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

Shank mutant mice as an animal model of autism

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

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