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Table 2 OCRL mutations in Chinese patients with Lowe syndrome

From: Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review

Patient number

Mutation type

Exon/intron

Nucleotide change

Protein change

Literature

1

Missense

Exon 21

c.2290_2291delinsCT

p.Glu764Leu

Dai et al. [10]

2

Missense

Exon 23

c.2581G > A

p.Ala861Thr

Dai et al. [10]

3

Missense

Exon 14

c.1423C > T

p.Pro475Ser

Zheng et al. [11]

4

Missense

Exon 15

c.1502 T > G

p.Ile501Ser

Zheng et al. [11]

5

Nonsense

Exon 22

c.2464C > T

p.Arg822Ter

Zheng et al. [11]

6

Complex

Exon 22

c.2368_2368delG, c.2370A > C

p.Ala790Profs*34

Zhou et al. [12]

7

Microdeletion (249 kb)

[hg19]arrXq25q26.1 (128,652,372–128,901,629) × 0

Zhang et al. [13]

8

Deletion

Exon 14

c.1389delT

p.Phe463Leufs*57

Song et al. [14]

9

Nonsense

Exon 11

c.1000C > T

p.Arg334Ter

Gao et al. [15]

10

Nonsense

Exon 18

c.2083C > T

p.Arg695Ter

Gao et al. [15]

11

Nonsense

Exon 8

c.577G > T

P.Glu193Ter

Zhang et al. [16]

12

Microdeletion (633 kb)

[hg19]arrXq25q26.1 (128,155,802–128,789,721) × 0

Zhu et al. [17]

13

Nonsense

Exon 15

c.1528C > T

p.Gln510Ter

Gao et al. [18]

14

Insertion

Exon 20

c.2187dupG

p.Arg730Glufs*41

Gao et al. [18]

15

Nonsense

Exon 14

c.1366C > T

p.Gln456Ter

Gao et al. [18]

16

Missense

Exon 15

c.1499G > A

p.Arg500Gln

Gao et al. [18]

17

Deletion

Exon 13

c.1281_1282delTT

p.Cys428Hisfs*2

Li et al. [19]

18

Insertion

Exon 22

c.2367insA

p.Ala813Ter

Liu et al. [20]

19

Splicing

Intron 20

c.2437 + 2_2437 + 4delTAAinsC

Ji et al. [21]

20

Deletion

Exon 5

c.321delC

p.Leu108Serfs*29

Ji et al. [21]

21

Complex

Exon 8

Exon 22

c.562C > T

c.2464C > T

p.Leu188Phe

p.Arg822Ter

Chen et al. [22]

22

Missense

Exon 15

c. 1571A > G

p.His524Arg

Shi et al. [23]

23

Deletion

Exon 18

c.1897delT

p.Ser633Leufs*11

Zhang et al. [24]

24

Deletion

Exon 15

c.1470delG

p.Lys491Asnfs*29

Zhang et al. [24]

25

Missense

Exon 15

c.1538A > G

p.Tyr513Cys

Zhang et al. [24]

26

Nonsense

Exon 10

c.880G > T

p.Glu294Ter

Ke et al. [25]

27

Insertion

Exon 24

c.2626dupA

p.Met876Asnfs*8

Ke et al. [25]

28

Insertion

Exon 20

c.2146_2147insTT

p.Ser716Phefs*27

Chen et al. [26]

29

Deletion

Exon 8

c.659_662delAGGG

p.E220Vfs*29

This report

30

Splicing

Intron 20

c.2257-2A > T

This report