Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

@article{Nagamani2013DetectionOC,
  title={Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders},
  author={Sandesh Chakravarthy Sreenath Nagamani and Ayelet Erez and Bruria Ben-Zeev and Moshe Frydman and Susan P Winter and Robert Zeller and Dima El-Khechen and Luis Guillermo G{\'o}mez Escobar and Paweł Stankiewicz and Ankita Patel and Sau W Cheung},
  journal={European Journal of Human Genetics},
  year={2013},
  volume={21},
  pages={343-346}
}
Small genomic rearrangements and copy-number variations (CNVs) involving a single gene have been associated recently with many neurocognitive phenotypes, including intellectual disability (ID), behavioral abnormalities, and autistic spectrum disorders (ASDs). Such small CNVs in the Autism susceptibility candidate 2 (AUTS2) gene have been shown to be associated with seizures, ID, and ASDs. We report four patients with small CNVs ranging in size between 133–319 kb that disrupt AUTS2. Two patients… CONTINUE READING