Table 1.
Overall | Presence of LGD mutation |
Regression | Number of individuals with: | ||||||
---|---|---|---|---|---|---|---|---|---|
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) |
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)