Table 1 Patient Characteristics

Ethnicity

Irish

Irish

Dutch

Patients

n = 16

n = 36

n = 18

Age (years)

20–40

17–51

18–47

Gender

9F, 7 M

15F, 21 M

12F, 6 M

Genotype (nucleotide annotation)

NA

31: (c.563A > G/c.563A > G)

2: c.568A > G/c.580 T > C

1: c.563A > G/c.997C > T

1: c.563A > G/c.379.A > G)

1: c.563A > G/unknown

10: (c.563A > G/c.563A > G)

3: (c.584 T > C/c.687G > T)

1: (c.563A > G/c.584 T > C)

1: (c.563A > G/c.400delT)

1: (c.563A > G/del exon 1_10)

1: (c.956A > C/c.956A > C)

1: Unknown

Genotype (protein variant)

NA

31: p.Q188R/p.Q188R

2: Q188R/p.F194 L

1: p.Q188R/p.R333W

1: p.Q188R/p.K127E,

1: p.Q188R/unknown

10: (p.Q188R/p.Q188R)

3: (p.L195P/p.K229 N)

1: (p.Q188R/p.L195P)

1: (p.Q188R/p.T134 fs)

1: (p.Q188R/del exon 1_10)

1: (c.956A > C/c.956A > C)

1: Unknown