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Table 2 Genotypes of 10 children with CNS

From: Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome

Patient

Exon

Nucleotide change

amino acid substitution

Mutation type

Mutation status

Mutation origin

Novel mutation

Functional effect

PolyPhen

SIFT

NPHS1 gene (RS: NM_004646.3)

 1

7

c.802C > T

p.R268X

Nonsense

Het

F

No

10

c.1528A > C

p.C528G

Missense

Het

M

No

damaging

deleterious

 2

20

c.2788C > T

p.Q930X

Nonsense

Het

F

Yes

27

c.3442delC

p.Q1148fsX1179

Frameshift

Het

M

Yes

 3

26

c.3325C > T

p.R1109X

Nonsense

Het

M

No

27

c.3478C > T

p.A1160X

Nonsense

Het

F

No

 4

13

IVS12 + 1C > A

NC

Splicing

Het

M

Yes

24

c.3213delG

p.G1071fsX1142

Frameshift

Het

F

Yes

 5

26

c.3325C > T

p.R1109X

Nonsense

Het

M

No

27

IVS26DS-2A > T

NC

Splicing

Het

F

Yes

 6

8

c.928G > A

p.D310N

Missense

Het

F

No

damaging

deleterious

16

c.2131C > G

p.R711G

Missense

Het

M

No

damaging

deleterious

 7

3

c.349G>A

p.E117K

Missense

Het

M

No

damaging

deleterious

8

c.928G > A

p.D310N

Missense

Het

F

No

damaging

deleterious

 9

10

c.1550G > T

p.T517K

Missense

Het

F

Yes

damaging

deleterious

10

c.1559G > A

p.S520 L

Missense

Het

M

Yes

damaging

deleterious

WT1 gene (RS: NM_024426.4)

 11

8

c.1334C > T

p.R445Q

Missense

Het

De novo

Yes

damaging

deleterious

COQ6 gene (RS: NM_182476.2)

 12

9

c.1078C > T

p.R360W

Missense

Hom

Parents

Yes

damaging

deleterious

  1. NC no change; −: No need for prediction; RS reference sequence