Table 3. Potentially non-XLID causing recurrent and non-recurrent transcript and protein truncating variants identified in the screen and not present in controls (dbSNP 135, 1000 Genomes Project, 200 Danish exomes, NHLBI Exome Sequencing Project (ESP6500, Exome Variant Server)).
| Recurrence in 248 probands | Gene | Variant | Protein length | Genomic location (Hg19) |
|---|---|---|---|---|
| 1 | ARSF | del5bp, p.F283Sfs*30 | 591 | X:3007551-3007555 |
| 1 | COL4A6 | del1bp, p.L891Sfs*14 | 1691 | X:107420086-107420086 |
| 1 | CXorf61 | C>T, p.W19* | 114 | X:115593961-115593961 |
| 1 | CXorf64 | C>T, p.R201* | 299 | X:125955222-125955222 |
| 3 | FAM58A | ins1bp, p.Q18Afs*39a | 248 | X:152864477-152864478 |
| 1 | FATE1 | ins7bp, p.M38* | 184 | X:150885749-150885750 |
| 1 | FRMD7 | del1bp, p.L713* | 715 | X:131211907-131211907 |
| 1 | GPR112 | ins2bp, p.A1156Gfs*7 | 3081 | X:135429330-135429331 |
| 1 | GUCY2F | G>A, p.R628* | 1109 | X:108652307-108652307 |
| 1 | HDAC8 | A>G, p.*257QKQLPQLVFPHLHSLV | 257 | X:71694548-71694548 |
| 1 | HS6ST2 | del1bp, p.V8Afs*27 | 606 | X:132092608-132092608 |
| 1 | MAGIX | ins1bp, p.G316Rfs*20 | 335 | X:49022676-49022677 |
| 1 | MAP3K15 | A>T, p.Y645* | 1314 | X:19416475-19416475 |
| 1 | SLC25A43 | C>T, p.R196* | 342 | X:118544221-118544221 |
Abbreviation: XLID, X-linked intellectual disability.
a
This variant is reported in dbSNP138.