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Table 3 De novo variants observed in the exomes of seven ROHHAD cases (discovery cohort)

From: Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

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
  1. All variants are heterozygous
  2. "*5" indicates the position 5 nucleotides 3' of the translation stop codon