Table 4 Genetic characteristics of individuals with ATP8A2 mutations

1

French Canadian, Algerian

Compound heterozygote

c.1185 + 5G > A

del exons 28–33

Destroys spice donor site in intron 12

Partial gene deletion

2

European Ashkenazi Native American

Compound heterozygote

c.1787delA

c.321 + 3_321 + 8 delAATGGT

p.Asn596MetfsX – frameshift

Destroys spice donor site in intron 3

3

Turkish

Homozygous^a

c.1756C > T

p.Arg586^* - premature stop codon

4

Moroccan

Homozygous^a

c.2104 T > C

p.Trp702Arg – missense

5

Sri Lankan

Homozygous^a

c.1286A > T

p.Lys429Met – missense

6

Iranian

Homozygous^a

c.1474_1662del (del exons 17–18)

p.Pro492_Ala554del

7

Iranian

Homozygous^a

c.1474_1662del (del exons 17–18)

p.Pro492_Ala554del

8

Lebanese

Homozygous

c.3188_3196delCTATGGTCC insGAAGAAG

p.Thr1063fs - frameshift

9

Lebanese

Homozygous

c.3188_3196delCTATGGTCC insGAAGAAG

p.Thr1063fs - frameshift

10

Spanish

Homozygous^a

c.1287G > T

p.Lys429Asn - missense

11

Spanish, Argentinian

Compound heterozygote

c.1630G > C

c.1873C > T

p.Ala544Pro – missense

p.Arg625Trp - missense