Table 2 Summary of the 35 FBP1 mutations reported in fructose-1,6-bisphosphatase deficiency

 Exon 2

c.88G > T

p.(E30*)

Japan

[8]

 Exon 4

c.359C > T

p.(P120L)

Turkey

This study

 Exon 5

c.472C > T

p.(R158W)

France

[5]

c.490G > A

p.G164S

Japan/South Korea/?

[5, 8, 19]

c.530C > A

p.A177D

Japan

[8]

 Exon 6

c.581 T > C

p.(F194S)

Japan

[20]

c.619G > C

p.(G207R)

Germany

This study

c.639C > G

p.(N213K)

?

[5, 7]

c.648C > G

p.(Y216*)

Sweden

[18]

c.685C > T

p.(Q229*)

Morocco

[5, 15]

 Exon 7

c.778G > A

p.G260R

Pakistan/Sweden

[18, 21]

 Exon 8

c.841G > A

p.(E281K)

Pakistan^b/Turkey^b

[3]

c.841G > T

p.(E281*)

Saudi Arabia

[22]

c.851C > G

p.(P284R)

Japan

[20]

c.881G > T

p.(G294V)

[7]

c.881G > A

p.(G294E)

Sweden/Pakistan

[18/3]

p.0?

Sweden

[18]

p.0?

Germany

This study

 Exon 2

c.-24–26_170 + 5192del

p.?

Turkey/Armenia

This study

c.35delA

p.N12Tfs*2

Turkey/Germany (?)

[21]

c.48delC

p.(F17Sfs*15)

France

[5]

 Exon 3–7

complete deletion

p.?

?

[5]

 Exon 6

c.616_619delAAAG

p.(K206V*70)

Turkey

[23]

c.660delT

p.(F220Lfs*57)

Turkey

[24]

 Exon 7

c.807delG

p.(K270Rfs*7)

?

[7]

 Exon 8

deletion^e

p.?

Germany

This study

c.838delT

p.Y280Tfs*25

South Korea

[19]

c.966delC

p.D323Tfs*7

Iran

[21]

 Exon 2

c.114_119dupCTGCAC

p.(C39_T40dup)

Saudi Arabia

[22]

 Exon 6

c.704dupC

p.(D236Rfs*2)

?

[7]

 Exon 8

c.865dupA

p.(M289Nfs*45)

Greece

[5]

c.959dupG^f

p.S321Ifs*13

Japan/Europe/China

[5, 7–9]

 Exon 7

c.731_738delins20

p.(R244_Y245delins6)

Turkey

[5]

 Intron 4

c.427–1del

p.(K143_P189del)

?

[5]

 Intron 7

c.825 + 1G > A

p.?

?

[5]