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Table 6 Genes with candidate variants observed in three of seven ROHHAD cases

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

Gene Proband ID Variant type Selected transcript and variant effect Polyphen-2 [22] Prediction (Probability) CADD [21] score (Phred-scaled) MAF (1000 genomes project; EVS; ExAC)a Inherited from No. of reads supporting reference call, No. of reads supporting variant call
FRAS1 41 Non-synonymous NM_001166133: exon27:c.3500G>A:p.R1167H Neutral (0) 0.01 Not Found; 0.000083; 0.000058 Mother 64,50
42 Non-synonymous NM_001166133: exon29:c.3963G>C:p.K1321N Neutral (0.076) 9.266 Not Found; 0.000082; 0.0000516 Mother 96,57
57 Non-synonymous NM_001166133: exon38:c.5003A>G:p.N1668S Deleterious (0.996) 15.68 Not Found; Not Found; Not Found Father 86,72
RELN 57 Non-synonymous NM_005045: exon54:c.8798C>T:p.T2933I Neutral (0.124) 16.6 0.000599042; 0.0002; 0.0002 Father 110,78
27 Non-synonymous NM_005045: exon51:c.8254G>A:p.G2752S Neutral (0.405) 23.3 Not Found; Not Found; Not Found Mother 12,14
45 Non-synonymous NM_005045: exon26:c.3651C>G:p.I1217M Deleterious (0.812) 19.32 0.000998403; 0.0034; 0.0027 Father 45,18
RIF1 18 Non-synonymous NM_018151: exon30:c.6314T>C:p.M2105T Neutral (0.002) 9.267 Not Found; Not Found; 0.0000165 Mother 59,50
41 Father 37,41
42 Splicing NM_018151: exon32:c.6825 + 2 T > C N/A 23.9 Not Found; Not Found; Not Found Father 48,34
23 Non-synonymous NM_001177665: exon4:c.346C>T:p.R116C Neutral (0.09) 14.47 Not Found; 0.0004; 0.0003 Unknown 84,90
POLE 27 Non-synonymous NM_006231: exon43:c.5965G>A:p.A1989T Neutral (0.043) 15.8 Not Found; Not Found; Not Found Mother 37,20
41 Non-synonymous NM_006231: exon41:c.5659G>A:p.V1887M Neutral (0.305) 10.07 Not Found; 0.0006; 0.0005 Mother 43,36
42 Non-synonymous NM_006231: exon13:c.1288G>A:p.A430T Deleterious (0.977) 24.5 0.000998403; 0.000077; 0.0007 Father 23,21
  1. Bolded row represents variant identified in replication exomes
  2. a1000 Genomes Project (http://www.1000genomes.org); EVS = Exome Variant Server (http://evs.gs.washington.edu/EVS/); ExAC = Exome Aggregation Consortium (http://exac.broadinstitute.org)
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172