Table 2 Patients with homozygous G6PC3 truncating, frameshift and splice-site mutations

22

30

White Greek

F

13

c.[141C > G]; [141C > G]

p.[Y47X]; [Y47X]

None

Not described

Prominent veins

None

None

None

[9]

23

31

Arab, Leb

M

5

c.[144C > A]; [144C > A]

p.[Y48X]; [Y48X]

None

Not described

No

None

Cryptorchidism and bilateral inguinal hernia.

Cleft palate

[9]

24

32

Pak

M

28

c.[190_210del]; [190_210del]

p.[T64_I70del]; [T64_I70del]

None

Not described

None

ASD

None

Granulomatous inflammatory bowel disease, splenomegaly, digital clubbing and short stature.

[14, 30]

24

33

Pak

F

16

None

Not described

None

None

None

Granulomatous inflammatory bowel disease, splenomegaly, digital clubbing and short stature.

[14, 30]

25

34

Hisp

F

12

c.[210delC]; [210delC]

p.[I70fsX46]; [I70fsX46]

None

Maturation arrest at myelocyte/promyelocyte stage

Prominent veins

Small ASD

None

Triangular face, depressed nasal bridge, growth retardation, growth hormone deficiency, enlarged anterior pituitary lobe.

[11]

26

35

Hisp

M

14

c.[210delC]; [210delC]

p.[I70fsX46]; [I70fsX46]

None

Maturation arrest at myelocyte/promyelocyte stage

Prominent veins

ASD

None

Triangular face, depressed nasal bridge, osteoporosis, Kawasaki’s disease, growth retardation and delayed puberty.

[11]

27

36

NA

M

NA

c.[210delC]; [210delC]

p.[I70fsX46]; [I70fsX46]*†

None

Not described

Not described

ASD and coronary aneurysm

Not described

Not described

[17]

28

37

Hisp

M

9

c.[218 + 1G > A]; [218 + 1G > A]

p.[?];[?]

None

Reduced mature neutrophils and increased reticular staining.

Prominent veins

ASD

Right inguinal hernia. Bilateral cryptorchidism.

Frontal bossing upturned nose, recessed chin and triangular face.

[11]

29

38

Mor

M

22

c.[257delA]; [257delA]*

p.[E86fs]; [E86fs]

Iron deficiency anaemia

Maturation arrest at promyelocyte stage

Prominent veins

ASD

Bilateral cryptorchidism

Poor growth

[38]

30

39

Persian

M

1

c.[416G > T]; [416G > T]

p.[?];[?]* ‡

None

Maturation arrest at myelocyte/promyelocyte stage

Prominent veins

ASD

None

None

[11]

31

40

Persian

M

9 m

c.[416G > T]; [416G > T]*

p.[?];[?]* ‡

None

Maturation arrest inmyelocyte stage

Not reported

ASD

None

Failure to thrive. Died at 9 m due to severe lung infection.

[37]

32

41

Hisp

M

11

c.[766_777del]; [766_777del]

p.[S255fs]; [S255fs]

Mild normocytic anaemia

Maturation arrest at myelocyte/promyelocyte stage

Prominent veins

ASD, MR and TR.

Left inguinal hernia. Right cryptorchidism.

Broad face, prominent ears, small nose, big mouth, narrow forehead and short philtrum. Mild hepatomegaly. Bilateral inner ear hearing loss.

[11]

33

42

Pak

F

1

c.[766_777del]; [766_777del]

p.[S255fs]; [S255fs]

None

Reduced mature neutrophils

None

Hypoplastic left ventricle (mild)

None

Congenital ptosis and growth retardation.

[11]

34

43

Hisp

M

19

c.[766_777del]; [766_777del]

p.[S255fs]; [S255fs]

Anaemia

Reduced mature neutrophils and magakaryocyte hyperplasia.

Prominent veins

ASD, MR and TR.

Right cryptorchidism.

Sensorineural hearing loss and prominent ears.

[28]

35

44

Irish

F

38

c.[829C > T]; [829C > T]

p.[Q277X]; [Q277X]

None

Hyperplasia of granulocyte precursors with maturation arrest

Varicose veins and PHT at 35y

ASD

Ureteric re-implantation at 12 months

Crohn's disease diagnosed at 7y, midface hypoplasia, full lips and prognathism.

[22, 23]

45

Irish

M

37

None

Not described

None

Mitral valve prolapse

Ureteric re-implantation at 2y

Crohn's disease diagnosed at 15y, mid-face hypoplasia, full lips and prognathism. Died at 37y due to multi-organ failure following infective endocarditis.

[22]

36

46

Persian

F

11

c.[935dupT]; [935dupT]

p.[N313fs]; [N313fs]

None

Maturation arrest atmyelocyte/promyelocyte stage

None

ASD

Mild VUR at 7 m (resolved at 2y).

Triangular face, depressed nasal bridge, growth retardation and cutis laxa.

[11]

37

47

Persian

M

2y

c.[935dupT]; [935dupT]

p.[N313fs]; [N313fs]

None

Maturation arrest inmyelocyte stage

Prominent veins

ASD

Unilateralhydronephrosis

None

[37]

38

48

Persian

M

10

c.[935dupT]; [935dupT]

p.[N313fs]; [N313fs]

None

Not described

No

ASD and PDA

None

None

[9]