Skip to main content
. 2013 Jun 13;8:84. doi: 10.1186/1750-1172-8-84

Table 2.

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

Fam Pt. no. Eth Sex Age Mutation Protein Atypical hemat features Bone marrow Vascular features Cardiac features Renal and genital defects Other features Ref
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]