Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autism

Autism is a neurodevelopmental disorder which is characterized by impaired social interaction which may include verbal and non-verbal communication. Some forms are genetically determined and those genes responsible can be tested.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Autism
Aniridia-Wilms-tumor syndrome
PAX6
WT1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
FOXP1
Williams-Beuren syndrome
ELN
X-linked susceptibility to autism 3
MECP2
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Hereditary benign chorea
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Vascular dementia
X-linked syndromic mental retardation 13

References:

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2.

Folstein S et al. (1977) Infantile autism: a genetic study of 21 twin pairs.

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3.

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4.

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46.

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47.

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48.

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49.

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58.

Cuscó I et al. (2009) Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

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59.

Wang K et al. (2009) Common genetic variants on 5p14.1 associate with autism spectrum disorders.

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60.

Glessner JT et al. (2009) Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.

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61.

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68.

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70.

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71.

Gauthier J et al. (2011) Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.

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72.

O'Roak BJ et al. (2011) Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

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73.

Voineagu I et al. (2011) Transcriptomic analysis of autistic brain reveals convergent molecular pathology.

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74.

Sanders SJ et al. (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

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75.

Levy D et al. (2011) Rare de novo and transmitted copy-number variation in autistic spectrum disorders.

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76.

Gilman SR et al. (2011) Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses.

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77.

Vaags AK et al. (2012) Rare deletions at the neurexin 3 locus in autism spectrum disorder.

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78.

Sanders SJ et al. (2012) De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

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79.

O'Roak BJ et al. (2012) Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

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80.

Neale BM et al. (2012) Patterns and rates of exonic de novo mutations in autism spectrum disorders.

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81.

Luo R et al. (2012) Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.

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82.

Kong A et al. (2012) Rate of de novo mutations and the importance of father's age to disease risk.

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83.

O'Roak BJ et al. (2012) Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

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84.

Lim ET et al. (2013) Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

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85.

Girirajan S et al. (2013) Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

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86.

Gamsiz ED et al. (2013) Intellectual disability is associated with increased runs of homozygosity in simplex autism.

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87.

Jiang YH et al. (2013) Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

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88.

King IF et al. (2013) Topoisomerases facilitate transcription of long genes linked to autism.

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89.

Krumm N et al. (2013) Transmission disequilibrium of small CNVs in simplex autism.

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90.

Poultney CS et al. (2013) Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.

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91.

Pinto D et al. (2014) Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

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92.

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93.

De Rubeis S et al. (2014) Synaptic, transcriptional and chromatin genes disrupted in autism.

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94.

Iossifov I et al. (2014) The contribution of de novo coding mutations to autism spectrum disorder.

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95.

Choi GB et al. (2016) The maternal interleukin-17a pathway in mice promotes autism-like phenotypes in offspring.

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96.

Parikshak NN et al. (2016) Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism.

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97.

Orphanet article

Orphanet ID 168778 [^]
98.

OMIM.ORG article

Omim 209850 [^]
99.

Wikipedia article

Wikipedia EN (Autism) [^]
Update: April 29, 2019