Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases

Table 3

Genetic analysis of 9 patients.

Id

Gene

Location

Base changes

Amino acid changes

Gene type

Effect

1000 g

ExAC

Shift

PolyPhen

MutationTaster

ACMG

Source of variation

1

LRP5

exon11

c.2447A > C

p.Q816P

Het

Nonsynonymous

N/A

N/A

D

Ps.D

D.C

Likely pathogenic

Maternal

2

LRP5

exon11

c.2431A > G

p.I811V

Het

Nonsynonymous

N/A

0.00000833

T

P.D

D.C

Uncertain

Maternal

3

LRP5

exon7

c.1434G > A

p.W478X

Het

Stop-gain

N/A

N/A

N/A

N/A

Dc.A

Pathogenic

Paternal

4

NDP

exon3

c.181C > A

p.L61I

Hemi

Nonsynonymous

N/A

N/A

D

P.D

D.C

Pathogenic

Maternal

5

NDP

exon2

c.134T > G

p.V45G

Hemi

Nonsynonymous

N/A

N/A

D

P.D

D.C

Pathogenic

Maternal

6

NDP

exon2

c.134T > A

p.V45E

Hemi

Nonsynonymous

N/A

N/A

D

P.D

Dc.A

Pathogenic

Maternal

7

FZD4

exon2

c.313A > G

p.M105V

Het

Nonsynonymous

N/A

0.0000167

T

Ps.D

Dc.A

Pathogenic

Maternal

8

FZD4

exon1

c.40_49del

p.P14fs

Het

fs

N/A

N/A

N/A

N/A

N/A

Pathogenic

Paternal

9

TPSAN12

exon4

c.194C > T

p.P65L

Het

Nonsynonymous

N/A

N/A

T

B

D.C

Uncertain

Maternal

B, benign; T, tolerated; D, damaging; P.D, probably damaging; Ps.D, possibly damaging; D.C, disease causing; Dc.A, disease-causing automatic; A, adenine; C, cytidine; G, guanine; T, thymine; Q, glutamine; P, proline; I, isoleucine; V, valine; W, tryptophan; X, Xaa; L, leucine; E, glutamic acid; M, methionine; fs, frameshift.