Table 3 De novo variants observed in the exomes of seven ROHHAD cases (discovery cohort)
Proband ID | Gene | Selected transcript and variant effect | Variant type | CADD [21] (Phred scaled) | PolyPhen-2 [22] prediction (probability) | Genomic position (GRCh37) |
|---|---|---|---|---|---|---|
Patient 18 | CD5 | NM_014207:c.1406A > G:p.E469G | Non-synonymous | 21.1 | Deleterious (1.000) | chr11:60893229 |
Patient 25 | CD36 | NM_001127444:c.1399A > G:p.R467G | Non-synonymous | 19.84 | Neutral (0.006) | chr7:80303443 |
C17orf53 | NM_024032:c.1046 T > C:p.I349T | Non-synonymous | 5.791 | Neutral (0.085) | chr17:42226217 | |
NEK7 | NM_133494:c.*2404A > G | 3′UTR | 12.83 | N/A | chr1:198291053 | |
Patient 27 | MAPKAPK5 | NM_139078:c.664 T > A:p.C222S | Non-synonymous | 22.6 | Deleterious (1.000) | chr12:112321388 |
PPP1R16B | NM_015568:c.477C > A:p.D159E | Non-synonymous | 29.7 | Deleterious (0.999) | chr20:37529233 | |
TAF1 | NM_004606:c.4356C > T:p.R1452= | Synonymous | 14.37 | N/A | chrX:70627913 | |
Patient 41 | PDE11A | NM_001077358:c.783C > T:p.D261= | Synonymous | 11.94 | N/A | chr2:178592832 |
FAM155B | NM_015686:c.*652G > A | 3'UTR | 1.311 | N/A | chrX:68750448 | |
Patient 42 | PLCXD3 | NM_001005473:c.*9191 T > C | 3'UTR | 4.216 | N/A | chr5:41311356 |
Patient 45 | CCT4 | NM_006430:c.*613G > A | 3'UTR | 4.916 | N/A | chr2:62095797 |
WDFY4 | NM_020945:c.8577G > T:p.T2859= | Synonymous | 1.393 | N/A | chr10:50174711 | |
FAM199X | NM_207318:c.828C > T:p.S276= | Synonymous | 15.08 | N/A | chrX:103432819 |