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Table 2 Variant-calling produced 52 candidate loci, which are listed below

From: Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant

Func

Gene

ExonicFunc

AAChange RefSeq

Conserved

Genomic location (hg19)

Ref

Het

Obs

exonic

NECAP2

non

NM_001145277: c.G527A: p.R176Q

336; LOD: 31

chr1:16778370

G

Het

A

exonic

GJB4

non

NM_153212: c.G371A: p.R124Q

387; LOD: 50

chr1:35227226

G

Het

A

exonic

ZC3H12A

non

NM_025079: c.C95T: p.P32L

 

chr1:37941192

C

Het

T

exonic

HEATR8

non

NM_001039464: c.T1103C: p.V368A

 

chr1:55119702

T

Het

C

exonic

PTGER3

non

NM_198718: c.A1136G: p.Q379R

 

chr1:71418711

T

Het

C

exonic

SLC22A15

non

NM_018420: c.G275C: p.S92T

483; LOD: 122

chr1:116534839

G

Het

C

exonic

FLG

stopgain

NM_002016: c.C9740A: p.S3247X

 

chr1:152277622

G

Het

T

exonic

IGSF9

non

NM_020789: c.G1085C: p.G362A

492; LOD: 133

chr1:159902414

C

Het

G

exonic

PLEKHA6

non

NM_014935: c.C29T: p.P10L

 

chr1:204242827

G

Het

A

exonic

OBSCN

non

NM_001098623: c.G6373T: p.A2125S

 

chr1:228464303

G

Het

T

exonic

RNF187

non

NM_001010858: c.C535T: p.R179W

439; LOD: 81

chr1:228680805

C

Het

T

exonic

EXO1

non

NM_003686: c.G820A: p.G274R

600; LOD: 366

chr1:242023882

G

Het

A

exonic

ITSN2

non

NM_019595: c.G4580A: p.R1527H

 

chr2:24431123

C

Het

T

exonic

FBXO41

non

NM_001080410: c.C1390T: p.R464C

609; LOD: 398

chr2:73492584

G

Het

A

exonic

BSN

non

NM_003458: c.C11090T: p.P3697L

510; LOD: 158

chr3:49700681

C

Het

T

exonic

HYAL3

non

NM_001200030: c.G533A: p.R178H

325; LOD: 28

chr3:50332501

C

Het

T

exonic

CRIPAK

non

NM_175918: c.C394G: p.H132D

 

chr4:1388693

C

Het

G

exonic

CRIPAK

non

NM_175918: c.C425G: p.P142R

 

chr4:1388724

C

Het

G

exonic

CRIPAK

syn

NM_175918: c.C456G: p.P152P

 

chr4:1388755

C

Het

G

exonic

TBC1D14

non

NM_001113361: c.C538G: p.L180V

569; LOD: 274

chr4:6925654

C

Het

G

exonic

SLC2A9

non

NM_020041: c.C824T: p.T275M

 

chr4:9922187

G

Het

A

exonic

RAB33B

non

NM_031296: c.C530T: p.T177M

653; LOD: 599

chr4:140394120

C

Het

T

exonic

FREM3

non

NM_001168235: c.G1570A: p.G524R

383; LOD: 48

chr4:144620259

C

Het

T

exonic

LOC345643

non

NM_001190787: c.A361T: p.T121S

419; LOD: 67

chr5:54518800

T

Het

A

exonic

GPR98

non

NM_032119: c.T6608C: p.V2203A

657; LOD: 625

chr5:89985795

T

Het

C

exonic

ULBP2

non

NM_025217: c.C79G: p.R27G

 

chr6:150263287

C

Het

G

exonic

SCAF8

non

NM_014892: c.T3450A: p.D1150E

678; LOD: 762

chr6:155154163

T

Het

A

exonic

IQCE

non

NM_152558: c.G528C: p.E176D

476; LOD: 115

chr7:2617938

G

Het

C

exonic

POU5F1B

non

NM_001159542: c.G142T: p.G48W

 

chr8:128428253

G

Het

T

exonic; splicing

ADAMTS13

non

NM_139026: c.A3817G: p.I1273V

378; LOD: 46

chr9:136324096

A

Het

G

exonic

ADAMTSL2

non

NM_001145320: c.G1261A: p.G421S

420; LOD: 68

chr9:136419800

G

Het

A

exonic

ARSD

non

NM_009589: c.C845A: p.A282D

329; LOD: 29

chrX:2835863

G

Het

T

exonic

SLC25A5

non

NM_001152: c.G413A: p.R138H

585; LOD: 319

chrX:118603925

G

Het

A

exonic

MAGEC1

non

NM_005462: c.G526C: p.V176L

358; LOD: 38

chrX:140993716

G

Het

C

exonic

SLC4A1

non

NM_000342: c.G539A: p.R180H

 

chr17:42337247

C

Het

T

exonic

HCN2

non

NM_001194: c.G227A: p.R76H

722; LOD: 1146

chr19:590172

G

Hom

A

exonic; splicing

UNC13A

non

NM_001080421: c.C3080T: p.P1027L

627; LOD: 471

chr19:17749893

G

Het

A

exonic

ZNF780B

non

NM_001005851: c.C1282T: p.R428C

 

chr19:40541484

G

Het

A

exonic

PSG8

non

NM_001130167: c.C110T: p.T37M

 

chr19:43268388

G

Het

A

exonic

ZC3H4

non

NM_015168: c.C3326T: p.P1109L

265; LOD: 16

chr19:47570199

G

Het

A

exonic

VSX1

stopgain

NM_199425: c.C165A: p.C55X

 

chr20:25062568

G

Het

T

exonic

WFDC11

non

NM_147197: c.T127C: p.W43R

295; LOD: 21

chr20:44278012

A

Het

G

exonic

LOC100132288

non

NM_001033515: c.C232T: p.R78C

422; LOD: 69

chr21:9909103

G

Het

A

exonic

SERPINB4

non

NM_002974: c.A193T: p.N65Y

 

chr18:61310424

T

Het

A

exonic

SEZ6L2

non

NM_001114099: c.G1342A: p.D448N

592; LOD: 341

chr16:29891206

C

Het

T

exonic

EPC1

non

NM_025209: c.G1384A: p.G462S

584; LOD: 314

chr10:32575629

C

Het

T

exonic

PWWP2B

non

NM_138499: c.G1036A: p.E346K

243; LOD: 13

chr10:134219040

G

Het

A

exonic

SGK223

non

NM_001080826: c.C622T: p.R208C

401; LOD: 57

chr8:8235297

G

Het

A

exonic

ATP6V0D2

non

NM_152565: c.G649A: p.D217N

513; LOD: 162

chr8:87162350

G

Het

A

exonic

ARPC1B

non

NM_005720: c.T1049G: p.M350R

410; LOD: 62

chr7:98991711

T

Het

G

exonic

CUL9

non

NM_015089: c.C2732T: p.P911L

463; LOD: 102

chr6:43164529

C

Het

T

exonic

XRN1

non

NM_001042604: c.A4484G: p.E1495G

622; LOD: 449

chr3:142037663

T

Het

C

  1. While ADAMTSL2 is the most likely source of the EDS phenotype, one or more of these loci may be contributing to the disease pathogenesis