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Table 1 Molecular and clinical findings of the fifteen MPS IVA patients

From: Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation

 

Cases

1

2

3

4

5

6

7

8

9

10

11

12

13

14

15

Sex

Male

Female

Male

Female

Female

Female

Female

Male

Female

Male

Female

Male

Female

Female

Male

Age at diagnosis (year/month)

4/5

3

8

3

5/4

7/7

3

4/4

5

3

8

5/4

5

4

6/8

Age of onset (year/month)

18 months

14 months

2

16 months

2/3

18 months

14 months

16 months

18 months

2

14 months

16 months

14 months

18 months

18 months

Consanguinity of the parents/degree

1st cousins

1st cousins

2nd cousins

3rd degree

2nd cousins

1st cousins

1st cousins

1st cousins

1st cousins

1st cousins

1st cousins

1st cousins

1st cousins

1st cousins

1st cousins

Symptoms

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Growth retardation

Short trunk

+

+

+

+

+

+

  

+

  

+

  

+

Short neck

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

Genu valgum

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Marked

Corneal opacities

+

+

+

+

+

+

+

+

+

+

+

+

+

+

+

Hepatomegaly

+

-

-

+

+

-

-

+

+

+

-

-

-

-

+

GALNS activity

nmol/h/mg leukocyte protein

0.006

0.08

0.01

0.007

0.008

0.02

0.05

0.006

0.06

0.03

0.05

0.04

0.01

0.009

0.03

Mutations

c.120 + 1G > A; IVS1 + 1G > A

c.120 + 1G > A; IVS1 + 1G > A

c.120 + 1G > A; IVS1 + 1G > A

c.120 + 1G > A; IVS1 + 1G > A

c.120 + 1G > A; IVS1 + 1G > A

c.287G > C; p.G66R

c.341C > T; p.A85T

c.1156C > T; p.R386C

c.120 + 1G > A; IVS1 + 1G > A

c.120 + 1G > A; IVS1 + 1G > A

c.120 + 1G > A; IVS1 + 1G > A

c.120 + 1G > A; IVS1 + 1G > A

c.120 + 1G > A; IVS1 + 1G > A

c.120 + 1G > A; IVS1 + 1G > A

c.863A > G; p.D288G

Haplotypes

ABcdeH

ABcdeH

ABcdeH

ABcdeH

ABcdeH

AbcDeh

AbCdEH

aBcDEH

ABcdeH

ABcdeH

ABcdeH

ABcdeH

ABcdeH

ABcdeH

aBcDEH