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:

1.

Folstein S et. al. (1977) Genetic influences and infantile autism.

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2.

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

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3.

Lopreiato JO et. al. (1992) A complex chromosome rearrangement in a boy with autism.

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4.

Piven J et. al. (1991) Platelet serotonin, a possible marker for familial autism.

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5.

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6.

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7.

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8.

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9.

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10.

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11.

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14.

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None (2001) Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q.

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37.

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38.

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43.

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44.

Ma DQ et. al. (2005) Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.

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45.

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46.

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47.

Vincent JB et. al. (2006) An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.

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48.

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49.

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50.

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51.

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52.

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53.

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54.

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55.

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56.

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57.

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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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62.

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64.

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65.

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66.

Pinto D et. al. (2010) Functional impact of global rare copy number variation in autism spectrum disorders.

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67.

Loirat C et. al. (2010) Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion.

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68.

Awadalla P et. al. (2010) Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.

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69.

Moreno-De-Luca D et. al. (2010) Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

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70.

Giulivi C et. al. (2010) Mitochondrial dysfunction in autism.

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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.

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92.

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93.

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94.

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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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Update: Sept. 26, 2018