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Table 3 Gene profile distribution in non-syndromic obese children

From: Genetic etiology and clinical features of non-syndromic pediatric obesity in the Chinese population: a large cohort study

ID

Gene

Postion

Exon

DNA

AA

Mutation Type

ACMG

ACMG

*Score

146

MC4R

18q21.32

1

c.494G > A

p.R165Q

nonsynonymous

LP#

PM1;PM5;PP3;PS4

NA

394

MC4R

18q21.32

1

c.494G > A

p.R165Q

nonsynonymous

LP#

PM1;PM5;PP3;PS4

187

MC4R

18q21.32

1

c.496G > A

p.V166I

nonsynonymous

LP#

PM1;BP4;PS4;PM2_Supporting

266

UCP3

11q13.4

3

c.208 C > T

p.R70W

nonsynonymous

LP#

PS4;PM2_Supporting; PP3;PP4

94

SEMA3B

3p21.31

5

c.169 C > T

p.Q57X

stopgain

LP

PVS1;PM2_Supporting

93

SEMA3D

7q21.11

18

c.1992 C > G

p.Y664X

stopgain

LP

PVS1;PM2_Supporting

142

SEMA3F

3p21.31

6

c.478 C > T

p.Q160X

stopgain

LP

PVS1;PM2_Supporting

335

NR0B2

1p36.11

2

c.566G > A

p.G189E

nonsynonymous

VUS#

PM2_Supporting; PM3_Strong

5

224

NRP1

10p11.22

10

c.1646 C > G

p.P549R

nonsynonymous

VUS

PM2_Supporting; PP3_Strong

5

301

SIM1

6q16.3

3

c.213 C > G

p.S71R

nonsynonymous

VUS#

PS4;BP4_Moderate

3

61

DYRK1B

19q13.2

6

c.754 C > T

p.R252C

nonsynonymous

VUS

PM2_Supporting; PM5

3

167

MC4R

18q21.32

1

c.176T > C

p.L59S

nonsynonymous

VUS

PM1;PM2_Supporting

3

387

NRP2

2q33.3

17

c.2723 A > G

p.Y908C

nonsynonymous

VUS

PM2_Supporting; PP3_Moderate

3

353

SEMA3D

7q21.11

18

c.2260 C > T

p.Q754X

stopgain

VUS

PVS1_Moderate; PM2_Supporting

3

254

SEMA3G

3p21.1

7

c.809G > A

p.C270Y

nonsynonymous

VUS

PM2_Supporting; PP3_Moderate

3

228

UCP3

11q13.4

3

c.209G > A

p.R70Q

nonsynonymous

VUS

PM2_Supporting; PM5

3

258

UCP3

11q13.4

3

c.250G > A

p.G84S

nonsynonymous

VUS

PM2_Supporting; PP3_Moderate

3

166

UCP3

11q13.4

3

c.283 C > T

p.R95C

nonsynonymous

VUS

PM2_Supporting; PP3_Moderate

3

275

UCP3

11q13.4

3

c.601G > A

p.D201N

nonsynonymous

VUS

PM2_Supporting; PP3

2

341

UCP3

11q13.4

3

c.601G > A

p.D201N

nonsynonymous

VUS

PM2_Supporting; PP3

2

262

PCSK1

5q15

6

c.704T > C

p.V235A

nonsynonymous

VUS

PP3_Moderate

2

75

PCSK1

5q15

6

c.704T > C

p.V235A

nonsynonymous

VUS

PP3_Moderate

2

320

PCSK1

5q15

6

c.704T > C

p.V235A

nonsynonymous

VUS

PP3_Moderate

2

86

MRAP2

6q14.2

2

c.92G > A

p.G31E

nonsynonymous

VUS

PM5

2

124

NRP1

10p11.22

10

c.1654 C > T

p.R552W

nonsynonymous

VUS

PP3_Moderate

2

135

NTRK2

9q21.33

15

c.1635T > G

p.F545L

nonsynonymous

VUS

PM2_Supporting; PP2

2

195

SEMA3B

3p21.31

4

c.200T > C

p.L67P

nonsynonymous

VUS

PP3_Moderate

2

88

SEMA3C

7q21.11

12

c.1280 A > G

p.Y427C

nonsynonymous

VUS

PM2_Supporting; PP3

2

389

SEMA3D

7q21.11

18

c.1975G > T

p.D659Y

nonsynonymous

VUS

PP3_Moderate

2

383

PLXNA3

Xq28

19

c.3323T > C

p.V1108A

nonsynonymous

VUS

PM2_Supporting; PP3

2

19

PLXNA4

7q32.3

14

c.2752 A > G

p.M918V

nonsynonymous

VUS

PM2_Supporting; PP2

2

128

PPARG

3p25.2

7

c.1331 C > T

p.A444V

nonsynonymous

VUS

PM2_Supporting; PP3

2

  1. Note: LP: ACMG rating as likely pathogenic; VUS: ACMG rating as variant of unknown significance;#: Reported in the literature; *Bayesian score: See reference 6 for criteria
  2. Abbreviations: MC4R: melanocortin 4 receptor; UCP3:uncoupling protein 3;SEMA3B: semaphorin−3B; SEMA3D: semaphorin−3D; SEMA3F: semaphorin−3D; NR0B2: nuclear receptor subfamily 0,group b, member 2;NRP1:neuropilin 1;SIM1:SIM b hlh transcription factor 1;DYRK1B: dual-specificity tyrosine phosphorylation-regulated kinase 1B; SEMA3G: semaphorin−3G; PCSK1:proprotein convertase, subtilisin/kexin-type,1;MRAP2:melanocortin 2 receptor accessory protein 2;NTRK2:neurotrophic tyrosine kinase, receptor, type 2;PPARG: peroxisome proliferator-activated receptor-gamma
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BMC Pediatrics

ISSN: 1471-2431

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