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Table 1 Distribution of 5' polymorphisms in a cohort of PEX1 peroxisome biogenesis disorder patients

From: Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients

Patient

1st mutation

Amino acids

Exon

hom/het

2nd mutation

Amino acids

Exon

hom/het

Survival (months)

c.-137 T > C

c.-53 C > G

ZS1

c.2226+2T > C

r.2072_2416del p.Ala691_Lys806 delinsGlu

intr13

hom

    

2

TT

CC

ZS2

c.274G > C

p.Val92Leu

3

hom

    

23

TT

CC

ZS3

c.2083_2085del

p.695del Met

13

hom

    

3

TT

CC

ZS4

c.3691_3694del

p.Gln1231HisfsX3

23

hom

    

3

TT

CC

ZS5

c.2383C > T

p.Arg795X

14

het

c.2584-2A > G

p.Val530ArgfsX34

Intron 15

het

4

TT

CC

ZS6

c.3038G > A

p.Arg1013His

20

het

c.3287C > G

p.Ser1096X

21

het

5

TT

CC

ZS7

c.2528G > A

p.Gly843Asp

15

het

c.274-1G > C

r.274_357del p.Val92_Leu119del

Intron 2

het

> 170

TT

CC

ZS8

c.2528G > A

p.Gly843Asp

15

het

2nd mutation?

   

70

TT

CC

ZS9

c.2528G > A

p.Gly843Asp

15

hom

    

> 187

TT

CC

ZS10

c.2528G > A

p.Gly843Asp

15

hom

    

> 214

TT

CC

ZS11

c.2528G > A

p.Gly843Asp

15

hom

     

TT

CC

ZS12

c.2528G > A

p.Gly843Asp

15

hom

    

> 240

TT

CC

ZS13

c.2528G > A

p.Gly843Asp

15

hom

    

2

TT

CC

ZS14

c.724G > A

p.Val242Ile

5

het

2nd mutation?

   

3

TC

GC

ZS15

c.94_96del

p.Pro32del

1

het

c.2981T > C

p.Leu994Pro

19

het

 

TC

GC

ZS16

c.911_912del

p.Ser304fsX2

5

het

c.2387T > C

p.Leu796Pro

14

het

33

TC

GC

ZS17

c.2528G > A

p.Gly843Asp

15

hom

    

5

TC

GC

ZS18

c.2528G > A

p.Gly843Asp

15

hom

     

TC

GC

ZS19

c.2097_2098insT

p.Ile700TyrfsX42

13

het

c.1952_1960dup

p.W653_M654ins TVW

12

het

10

TC

GC

ZS20

c.2097_2098insT

p.Ile700TyrfsX42

13

het

c.2528G > A

p.Gly843Asp

15

het

 

TC

GC

ZS21

c.2097_2098insT

p.Ile700TyrfsX42

13

het

c.2528G > A

p.Gly843Asp

15

het

> 214

TC

GC

ZS22

c.2097_2098insT

p.Ile700TyrfsX42

13

het

c.3037C > G

p.Arg1013G

20

het

3

TC

GC

ZS23

c.2097_2098insT

p.Ile700TyrfsX42

13

het

c.3124A > C

F1042V

 

het

> 120

TC

GC

ZS24

c.2097_2098insT

p.Ile700TyrfsX42

13

het

c.2916delA

p.Gly973AlafsX16

18

het

3

TC

GC

ZS25

c.2528G > A

p.Gly843Asp

15

het

c.1439delT

p.Leu480TrpfsX2

7

het

18

TC

CC

ZS26

c.2528G > A

p.Gly843Asp

15

het

2nd mutation?

    

TC

CC

ZS27

c.2528G > A

p.Gly843Asp

15

het

c.2614C > T

p.Arg872X

16

het

 

TC

CC

ZS28

c.2097_2098insT

p.Ile700TyrfsX42

13

hom

    

11

CC

GG

ZS29

c.2097_2098insT

p.Ile700TyrfsX42

13

hom

    

5

CC

GG

ZS30

c.2528G > A

p.Gly843Asp

15

het

c.249insT

p.Leu84SerfsX24

2

het

3

CC

GG

  1. The table displays the 5' polymorphisms and the previously identified exonic mutations in 30 PEX1 patients. Mutations c.2528 G > A and c.2097_2098insT are especially common. Homozygosity (hom.) is inferred from the absence of heterozygosity in the sequencing reaction and the absence of a second site mutation in PEX1. In three patients, ZS 8, ZS 14, and ZS 26, the second mutation is not identified. The 5' polymorphism genotypes were determined by direct sequencing. Four possible constellations of the 5' polymorphisms were identified in the patient collective. Patients' survival is indicated where this information was available. > before number of months indicates patients that are alive and reached the respective age at the last follow-up in 2010.
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BMC Medical Genetics

ISSN: 1471-2350

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