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]