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Table 3 CASK intragenic mutations identified in our series and in literature (ref seq NM_003688.3)

From: Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Type of mutation

Exon

Mutation

Protein change predicted

Family

Sex

Phenotype

Reference

Nonsense

2

c.79 C > T

p.Arg27*

nd

F

MICPCH

[28]

 

4

c.316 C > T

p.Arg106*

de novo/de novo

F/M

MICPCH

[28], This study

 

5

c.379 C > T

p.Glu127*

nd

F

MICPCH

[29]

 

17

c.1639 C > T

p.Gln547*

nd

F

MICPCH

[29]

 

21

c.1915 C > T

p.Arg639*

de novo

F

MICPCH

[26]

 

21

c.1968 G > A

p.Trp656*

de novo

F

MICPCH

[27], This study

 

21

c.1970 G > A

p.Trp657*

de novo

F

MICPCH

[27], This study

 

22

c.2074 C > T

p.Gln692*

nd/de novo

F

MICPCH

[29], This study

 

22

c.2080 C > T

p.Gln694*

de novo

F

MICPCH

This study

 

27

c.2632 C > T

p.Gln878*

de novo

F

MICPCH

[28]

Frameshift

2

c.68delT

p.Phe23fs

de novo

F

MICPCH

[29]

 

3

c.243_244delTA

p.Tyr81*

nd

F

MICPCH

[28]

 

15

c.1501dupA

p.Met501fs

de novo

F

MICPCH

This study

 

16

c.1578delG

p.Arg526fs

de novo

F

MICPCH

[27]

Splice defect

I2

c.173-2A > C

Skipping of exon 3 leading to premature stop codon

de novo

F

MICPCH

[29]

 

I3

c.278 + 1 G > A

Exon skipping ? a

de novo

M

MICPCH

This study

 

I4

c.357-1 G > A

Skipping of exon 5 or skipping of exon 5

and insertion of partial intron 5

de novo

F

MICPCH

[28]

 

I5

c.430-2A > T

Exon skipping ? a

nd

F

MICPCH

[29]

 

I8

c.831 + 2 T > G

Exon skipping ? a

de novo

F

MICPCH

[29]

 

9

c.915 G > A

Skipping of exon 9 leading to an in-frame deletion

of 28 amino-acids

Mother normal

M

MICPCH

[26]

 

I17

c.1668 + 1 G > A

Exon skipping ? a

de novo

F

MICPCH

[29]

 

I21

c.2039 + 1 G > T

Exon skipping ? a

de novo

F

MICPCH

This study

 

I21

c.2040-1 G > C

Skipping of partial or entire exon 22

de novo

F

MICPCH

[28]

 

I21

c.2040-2A > G

Exon skipping ? a

de novo

F

MICPCH

This study

 

22

c.2129A > G

p.710_718del

splicing defect leading to an in-frame deletion of 9 amino acids

familial

M

ID-nystagmus

[33, 35]

 

I24

c.2302 + 5 G > A

Skipping of exon 24 leading to an in-frame deletion of 28 amino acids and insertion of a Asp residue

de novo

F

MICPCH

This study

 

I25

c.2521-2A > T

Splicing defect leading to 2 in-frame deletions (3 amino acids; 28 amino acids)

familial

M

ID-nystagmus

[35]

Missense

2

c.83 G > T

p.Arg28Leu

Familial

M/F

FG syndrome

[34]

 

8

c.802 T > C

p.Tyr268His

Familial

M

ID-nystagmus

[33, 35]

 

13

c.1186 C > T

p.Pro396Ser

Familial

M/F

ID

[33, 35]

 

23

c.2168A > G*

p.Tyr723Cysb

Familial

M/F

ID-nystagmus

[35]

 

27

c.2740 T > C**

p.Trp914Argc

Familial

M

ID

[33, 35]

  1. In bold, mutations found in our patients (Mutations are named according to the guidelines of the Human Genome Variation Society (HGVS) Version 2.0)
  2. aExperimental data non available. bThis mutation was reported as Y728C by Hackett according to reference sequence ENST00000378163 but the nucleotide substitution is c.2168A > G and the mutation Y723C according to the reference sequence NM_003688.3. cThis mutation was reported as W919R by Hackett according to reference sequence ENST00000378163 but the nucleotide substitution is c.2740 T > C and the mutation W914R according to the reference sequence NM_003688.3. nd: not done. F: female; M male; MIC-PCH: mental retardation, microcephaly and pontocerebellar hypoplasia; I: intron; ID: intellectual disability