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

Table 1 22q13.3 deletions involving SHANK3 identified through microarray analyses in autism spectrum disorder samples

Study	Subjects	22q13.3 deletions
Sebat et al.[5]	165	1 de novo
Moessner et al. [6]	400	2 de novo^a
Weiss et al. [7]	299 ^b	0
van der Zwaag et al.[8]	105	0
Guilmatre et al.[9]	260	2 de novo
Qiao et al.[10]	100	0
Schaefer et al.[11]	68	0
Pinto et al.[12] + Autism Genome Project (manuscript in preparation)	2,446	3 de novo^c
Shen et al.[13]	848	0
Rosenfeld et al.[14]	1,461	4 (2 de novo, 2 unknown)
Bremer et al.[15]	223	1 de novo
Sanders et al.[16]	1,124	0
Wisniowiecka-Kowalnik et al.[17]	145	0
Girirajan et al.[18]	243	0
Total	7,887	13 (0.16%)

^a Family 3524, with two affected siblings with an apparent de novo SHANK3 deletion, was part of another cohort and was thus not included here. In addition, this family’s deletion was previously reported in Sebat et al. [5].
^b 299 patients from deCODE (Iceland); subjects from AGRE and Boston Children’s Hospital overlap other studies and were not included here.
^c One family (2072) was already reported in Sebat et al. [5] (89-3524-100) and Moessner et al. [6] (3524), and was not included here.

ISSN: 2040-2392