Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development.

@article{Waga2011NovelVO,
  title={Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development.},
  author={Chikako Waga and Nobuhiko Okamoto and Yumiko Ondo and Reiko Fukumura-Kato and Yu-ichi Goto and Shinichi Kohsaka and Shigeo Uchino},
  journal={Psychiatric genetics},
  year={2011},
  volume={21 4},
  pages={208-11}
}
The 22q13.3 deletion syndrome is characterized by a significant delay in language development, mental retardation, hypotonia, and autistic features. Cumulative evidence has shown that haploinsufficiency of the SHANK3 gene is a major cause of the neurological symptoms of the 22q13.3 deletion syndrome. Shank3, a multidomain protein containing the SH3 and PDZ domains, is thought to play an important role in the formation and function of synapses in the developing brain. In this study, we analyzed… CONTINUE READING
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