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. 2008 Dec 18;46(1):1–8. doi: 10.1136/jmg.2008.060871

Table 2. SHANK3 and autistic spectrum disorders.

Reference Patients with ASD, n De novo mutations, n (%) Mutations/deletions Clinical phenotype
Durand et al40 227 3/227 (1.3) 142 kb del at 22q13, E409X, 800 kb del at 22q13* Autism with severe language and social deficits
Moessner et al41 400 4/400 (1) 277 kb del at 22q13, 3.2 Mb del at 22q13,* 4.36 Mb del at 22q13, Q321R Autism with non-verbal communication and social deficits
Total 627 7/627 (1.1) — —

ASD, autistic spectrum disorders.

*Parents have a balanced translocation.