Table 3.

Patients with compound heterozygous G6PC3 deficiency

Fam	Pt. no.	Eth	Sex	Age	Mutation	Protein	Atypical hemat features	Bone marrow	Vascular features	Cardiac features	Renal and genital defects	Other features	Ref
39	49	Cauc	M	7	c.[131C > T]; [758 G > A]	p.[P44L]; [R253H]	None	Reduced numbers of mature neutrophils	Prominent veins	ASD	Bilateral undescended testis, poor renal cortico-medullary differentiation	Flat malar region, short philtrum, splenomegaly, right ptosis	[11]
40	50	Cauc	M	7	c.[208insC]; [778G > C]	p.[I70fsX16]; [G260R]	None	Hypocellular bone marrow with mature arrest.	Prominent veins	ASD	Left inguinal hernia	Triangular face, height and weight below 3rd centile and growth hormone deficiency.	[11]
41	51	Hisp	M	1	c.[210delC]; [348G > A]	p.[I70fsX46]; [M116I]	None	Maturation arrest at promyelocyte/myelocyte stage	Prominent veins	ASD	Ambiguous genitalia. Enlarged prostatic utricle and congenital hydronephrosis.	Triangular face, prominent upper lip, depressed tip of nose, narrow thorax, inverted nipples and flattening of acetabulum with the sacroiliac notch.	[11]
42	52	NA	F	18	c.[326–1 G > A]; [778G > C]	p.[?]; [Gly260R]	T-cell lymphopenia	Normal haematopoiesis	Prominent veins	Mitral valve insufficiency	None	Inflammatory bowel disease diagnosed at 8y, hypergammaglobulinemia and growth delay.	[19]
43	53	Cauc	M	18	c.[482G > A]; [565C > T]	p.[R161Q]; [R189X]	None	Not described	Prominent veins	ASD and bicuspid aortic valve	Small kidneys, bilateral undescended testes	Delayed puberty, Pyloric stenosis neonatally, massive splenomegaly age 14 years requiring removal, growth retardation.	[11]
44	54	Cauc	F	16	c.[677 + 1G > A]; [829C > T]	p.[?]; [Gln277X]	None	Not described	Prominent veins	ASD	None	None	[11]
45	55	White French	F	13	c.[677 + 1G > A]; [829C > T]	p.[?]; [Gln277X]	None	Not described	Prominent veins	None	None	Myopathy	[9]
46	56	White British	F	8	c.[757C > T]; [1000_1001del]	p.[R253C]; [M334fs]	None	Normal cellularity and maturation.	None	None	None	None	[13]
	57	White British	F	18			None	Not described	None	None	None	None	[13]

Key for Tables  1, 2 and 3: ASD atrial septal defect, Arm Armenian, Cauc Caucasian, Eth ethnicity, Fam family, Ger German, hemat haematological, Hisp Hispanic, Leb Lebanese, Mor Moroccan, MR mitral regurgitation, NA not available, Pak Pakistani, PFO patent foramen ovale, PHT pulmonary hypertension, PS pulmonary stenosis, Pt. no. – patient number, Ref references, TR tricuspid regurgitation, Turk Turkish, VUR vesico uretric reflux; and * denotes entries where the information is derived or corrected from the original publication. †The c.210delC mutation was described to result in p.I70fsX115 by Xia et al. However, the correct predicted protein with this mutation should be p.I70fsX46. ‡ Please see main text for explanation for how this mutation affects the splice site.

Patient numbers are continuous from Tables  1, 2 and 3.