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Table 2 De novo SHANK3 mutations identified through large-scale screening of autism spectrum disorder samples

From: SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders

Study Subjects Mutations Nucleotidea Proteinb Exon/intron
Durand et al. [2] 227 1 g.51159940-51159941insG p.A1227fs exon 21
Moessner et al.[6] 400 1 g.51121844A>G p.Q321R exon 8
Gauthier et al. [22] 427 1 g.51153476delG (splice site deletion) intron 19
Schaaf et al. [23] 339 0    
Boccuto et al. [24] 221 2 g.51117094C>G p.P141A exon 4
g.51160144delG p.E1295fs exon 21
Total 1,614 5 (0.31%)    
  1. a Genomic locations are based on GRCh37 (hg 19). bSHANK3 reference sequence NM_033517.1 (mRNA) and NP_277052.1 (protein).