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] |