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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