. Author manuscript; available in PMC: 2018 Nov 1.

Published in final edited form as: J Autism Dev Disord. 2017 Nov;47(11):3600–3607. doi: 10.1007/s10803-017-3256-4

Table 1.

Rates of regression with presence of de novo LGD mutations

	Overall	Presence of LGD mutation	Regression	Number of individuals with:
	Overall	Presence of LGD mutation	Regression	Any LGD Mutation	Chromatin Modifiers	Essential Genes	Embryonically Expressed	FMRP Targets	Post Synaptic Density Genes
Full	2508	388 (13.4% of total)	295 (11.8% of total)	388 Loss=35 No Loss=353	52 Loss=4 No Loss=48	82 Loss=11 No Loss=71	76 Loss=3 No Loss=73	98 Loss=10 No Loss=88	46 Loss=8 No Loss=38
Male	2166	317 (14.6% of males)	266 (12.3% of males)	With mutations to genes only falling in one functional cluster:	13 Loss=1 No Loss=12	14^** Loss=4 No Loss=10	31^*** Loss=0 No Loss=31	20 Loss=2 No Loss=18	11^* Loss=4 No Loss=7
Female	342	71 (20.8% of females)	29 (8.5% of females)		13 Loss=1 No Loss=12	14^** Loss=4 No Loss=10	31^*** Loss=0 No Loss=31	20 Loss=2 No Loss=18	11^* Loss=4 No Loss=7

Significantly higher rate of regression with de novo LGD mutations to post synaptic density genes (Fisher’s Exact p=.01)

^**

Trend toward higher rate of regression with de novo LGD mutations to essential genes (Fisher’s Exact p=.02)

^***

Trend toward lower rate of regression with de novo LGD mutations to embryonically expressed genes (Fisher’s Exact p=.09)