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

Barclay, Sarah F.; Rand, Casey M.; Borch, Lauren A.; Nguyen, Lisa; Gray, Paul A.; Gibson, William T.; Wilson, Richard J. A.; Gordon, Paul M. K.; Aung, Zaw; Berry-Kravis, Elizabeth M.; Ize-Ludlow, Diego; Weese-Mayer, Debra E.; Bech-Hansen, N. Torben

doi:10.1186/s13023-015-0314-x

Orphanet Journal of Rare Diseases

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	Non-synonymous	NM_018151: exon30:c.6314T>C:p.M2105T	Neutral (0.002)	9.267	Not Found; Not Found; 0.0000165	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

Bolded row represents variant identified in replication exomes
^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)

Back to article page

ISSN: 1750-1172

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com