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Table 4 Results of extended de novo analysisa and C17ORF53 mutation analysis

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

Gene

Genomic position (GRCh37)

Variant type

Selected transcript and variant effect

MAF (Minor allele count/total allele count: 1000 genomes project; EVS; ExAC)b

CADD [21] (Phred scaled)

PolyPhen-2 [22] (probability)

Patient

Inheritance

PDE11A

chr2:178592832

Synonymous

NM_001077196: c.525C>T:p.D175D

Not found; Not Found; 0.000016 (2/122254)

11.94

N/A

Patient 41

De novo

chr2:178528608

Non-synonymous

NM_001077196: c.1300A>G:p.M434V

0.0027 (6/2178); Not found; 0.00032 (39/122690)

18.54

Neutral (0.027)

Patient 24

Unknown

Patient 18

Inherited (and present in MZ twin)

chr2:178937010

Non-synonymous

NM_016953: c.155G>C:p.R52T

0.0005 (1/2178); 0.0025 (33/13006); 0.0016 (190/118894)

2.494

Neutral (0.016)

Patient 5

Unknown

chr2:178936994

Frameshift (1 bp del)

NM_016953: c.171del:p.G57fs

Not found; Not found; Not found

22.6

N/A

Patient 42

Inherited

C17ORF53 c

chr17:42226217

Non-synonymous

NM_001171251: c.1046T>C:p.I349T

Not found; Not found; Not found

5.791

Neutral (0.085)

Patient 25

De novo

chr17:42235240

Non-synonymous

NM_001171251: c.1810G>A:p.E604K

Not found; Not found; 0.000043 (5/117236)

7.093

Neutral (0.494)

Patient 5

Unknown

chr17:44162274

3′ UTR

NM_001171251: c.*342C > G

Not found; Not found; Not found

6.536

N/A

Patient 11

Unknown

WDFY4

chr10:50174711

Synonymous

NM_020945: c.8577G > T:p.T2859=

Not found; Not found; Not found

1.393

N/A

Patient 45

De novo

 

chr10:50186393

Non-synonymous

NM_020945: c.9331C > T:p.R3111W

0.0005 (1/2178); 0.00088 (4/4566); 0.00074 (15/20336)

6.501

Deleterious (0.66)

Patient 42

Inherited

FAM199X

chrX:103432819

Synonymous

NM_207318: c.828C > T:p.S276=

Not found; Not found; 0.000024 (3/122866)

15.08

N/A

Patient 45

De novo

chrX:103435332

3'UTR

NM_207318: c.*876C > G

Not found; Not found; Not found

3.885

N/A

Patient 18

Inherited (and present in MZ twin)

  1. aAll 16 ROHHAD exomes were searched for candidate variants (as described in methods: novel or rare (MAF < 0.005) exonic, UTR, or splice site (within 2 bp of an exon) variants not within a segmental duplication) within the 13 genes identified as containing de novo variants in one ROHHAD proband
  2. b1000 Genomes Project (http://www.1000genomes.org); EVS = Exome Variant Server (http://evs.gs.washington.edu/EVS/); ExAC = Exome Aggregation Consortium (http://exac.broadinstitute.org)
  3. c Of these four genes, C17ORF53 was selected for mutation analysis in an additional 19 ROHHAD patients. One additional sequence variant was identified through this analysis, and is represented in the bolded row
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172