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

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

Study	Subjects	Mutations	Nucleotide^a	Protein^b	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
Boccuto et al. [24]	221	2	g.51160144delG	p.E1295fs	exon 21
Total	1,614	5 (0.31%)

^a Genomic locations are based on GRCh37 (hg 19). ^bSHANK3 reference sequence NM_033517.1 (mRNA) and NP_277052.1 (protein).

ISSN: 2040-2392