Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

  title={Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development},
  author={Heather L Wilson and John Anthony Crolla and Dena Walker and Lina Artifoni and Bruno Dallapiccola and Takako Takano and Pradeep Vasudevan and Shuwen Huang and Vivienne K Maloney and Twila M Yobb and Oliver Quarrell and H. E. McDermid},
  journal={European Journal of Human Genetics},
The severe mental retardation and speech deficits associated with 22q13 terminal deletions have been attributed in large part to haploinsufficiency of SHANK3, which maps to all 22q13 terminal deletions, although more proximal genes are assumed to have minor effects. We report two children with interstitial deletions of 22q13 and two copies of SHANK3, but clinical features similar to the terminal 22q13 deletion syndrome, including mental retardation and severe speech delay. Both these… CONTINUE READING
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