Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

@article{Boccuto2013PrevalenceOS,
  title={Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders},
  author={Luigi Boccuto and Maria Lauri and Sara M Sarasua and Cindy D Skinner and Daniela Buccella and Alka Chaubey nee Dwivedi and Daniela Orteschi and Julianne S. Collins and Marcella Zollino and Paola Visconti and Barb DuPont and Danilo Tiziano and Richard J Schroer and Giovanni Neri and Roger E Stevenson and Fiorella Gurrieri and Charles E. Schwartz},
  journal={European Journal of Human Genetics},
  year={2013},
  volume={21},
  pages={310-316}
}
Autism spectrum disorders (ASDs) include three main conditions: autistic disorder (AD), pervasive developmental disorder, not otherwise specified (PDD-NOS), and Asperger syndrome. It has been shown that many genes associated with ASDs are involved in the neuroligin–neurexin interaction at the glutamate synapse: NLGN3, NLGN4, NRXN1, CNTNAP2, and SHANK3. We screened this last gene in two cohorts of ASD patients (133 patients from US and 88 from Italy). We found 5/221 (2.3%) cases with pathogenic… CONTINUE READING

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Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
We found 5/221 ( 2.3% ) cases with pathogenic alterations : a 106 kb deletion encompassing the SHANK3 gene , two frameshift mutations leading to premature stop codons , a missense mutation ( p .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
Autism spectrum disorders ( ASDs ) include three main conditions : autistic disorder ( AD ) , pervasive developmental disorder , not otherwise specified ( PDD - NOS ) , and Asperger syndrome .
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