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Table 1 Cerebral cortical malformations causing mutations detected in WDR62

From: A novel single base pair duplication in WDR62 causes primary microcephaly

Mutation

 

DNA level

Protein level

Typea)

Exon

First reported

c.193 G > A

p.Val65Met

M

2

[13]

c.332G > C

p.Arg111Thr

M

3

[33]

c.363delT

p.Asp122Metfsx5

SD

4

[16]

c.535_536insA

p.Met179fsx21

SI

5

[24]

c.671G > C

p.Trp224Ser

M

6

[13]

c.900C > A

p.Cys300Term

N

8

[24]

c.1043 + 1G > A

p.Ser348ArgfsX63

S

8

[16]

c.1142delA

p.H381PfsX48

SD

9

[33]

c.1194G > A

p.Trp398Term

N

9

[33]

c.1198G > A

pGlu400Lys

M

9

[34]

c.1313G > A

p.Arg438His

M

10

[13]

c.1408C > T

p.Gln470Term

N

11

[5]

c.1531G > A

p.Aps511Asn

M

11

[13]

c.1576G > A

p.Glu526Lys

M

12

[5]

c.1576G > T

p.Glu526Term

N

12

[5]

c.1942C > T

p.Gln648Term

N

15

[35]

c.2083delA

p.Ser696AlafsX4

SD

17

[36]

c.2115C > G

p.Gly705Gly

CS

17

[37]

c.2527dupG

p.Asp843GlyfsX3

SI

22

Present study

c.2472_2473delAG

p.Gln918GlyfsX18

SD

23

[36]

c.2867 + 4_c2867 + 7delGGTG

p.Ser956CysfsX38

SD

23

[16]

c.2864-2867delACAG

p.D955AfsX112

SD

23

[38]

c.3232G > A

p.Ala1078Thr

M

27

[13]

c.3361delG

p.Ala1121GlnfsX5

SD

28

[33]

c.3503G > A

p.W1168Term

N

29

[33]

c.3839_3855delGCCAAGAGCCTGCCCTG

p.Gly1280AlafsX21

SD

30

[5]

c.3936dupC

p.Val1314ArgfsX18

SI

30

[13]

c.4205delTGCC

p.V1402GfsX12

SD

31

[5]

c.4241dupT

p.Leu1414LeufsX41

SI

31

[13]

c.1821dupT

p.Arg608SerfsX26

I

14

[39]

  1. a)M = Missense, N = Nonsense, S = Splice-site affecting mutation, SI = small insertion, SD = Small deletion, CS = Cryptic splice site.
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BMC Medical Genetics

ISSN: 1471-2350

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