Table 1 Presentation of patients and mutations in PHKB gene (NM_000293.1) reported in the literature
Patient | Gender | Onset (year) | Ethnicity | Hypoglycemia | Hepatomegaly | Biochemical findings | Pathological findings | Mutation | Variant type | Development | Ref. |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 2a 3a | F M M | 1.6 0.5 2.6 | UK Ireland Ireland | Yes No No | No Yes Yes | NR NR NR | - Mild Liver dysfunction Slight Liver dysfunction | c.[555G > T] + [=],p.M185I c.[1257T > A]+[2336 + 965 A > C],p.Y419X c.[1257T > A]+[2336 + 965 A > C],p.Y419X | Missense Nonsense Nonsense | Normal Slightly hypotonic, speech poor Normal | [2] |
1 | M | 2.10 | German | No | Yes | NR | Slight Liver dysfunction | c.306-2 A > G | Deletion of exon 5 | Normal | [3] |
1 2 3 4 5 | F M F M M | 2.10 25 6 5 1.6 | German Norway Dutch UK Israeli-Arab | Yes Just with exercise No No No | Yes Yes Yes Yes Yes | Elevated AST,ALT,TG NR Normal AST,ALT,TG NR NR | NR NR NR NR NR | c.1275dupA, p.N422KfsX c.1969 C > T p.Q657X c.1257T > A, p.Y419X c.2926G > T, p.E976X c.2896-1G > T, c.2896_2911del16 c.1285 C > T, p.R429X 7574-bp deletion of exon 8 | Nonsense Nonsense Nonsense Nonsense Frame-shift deletion Nonsense Deletion of exon 8 | hypoglycemic symptoms upon physical exercise Normal Normal Doll-face, abdominal extension (noted since early infancy) and muscle weakness, reduced muscle power and bulk A doll-face, mild generalized muscular hypotonia, but blood glucose and glucagon test normal | [6] |
1 | F | 2.9 | Dutch | Yes | Yes | Elevated AST, LDH, TG | No fibrosis | c.1827G > A, p.W609X IVS30− 1,g→t | Nonsense splice site | No hypotonia or muscle weakness | [7] |
1 2 3 | M M M | 1.3 1.5 1.6 | Canadian | No No No | Yes Yes Yes | Elevated AST,ALT Elevated AST,ALT Normal AST, ALT | NR NR NR | c.2839 C > T, p.Gln947X c.2839 C > T, p.Gln947X c.1106-2 A > G, p? | Nonsense Nonsense Split-site mu | Normal Short stature Normal | [8] |
1 2 3 | F M M | NR | French | No No No | Yes Yes Yes | Elevated AST,ALT Elevated AST,ALT Normal AST,ALT | Mild Liver dysfunction Slight Liver dysfunction Slight Liver dysfunction | c.1285 C > T, p.R429X c.573_577delGATTA, c.2427 + 3 A > G | Nonsense Deletion Missense | Normal Normal Normal | [9] |
1 | M | 0.6 | English | No | Yes | Normal AST,ALT | Splenomegaly, no liver biopsy | c.555G > T, p.Met185Ile c.574 A > G, p.Ile192Val | Missense Missense | Normal Normal | [10] |
1 | F | 2 | Iranian | Yes | Yes | Elevated AST,ALT, Chol | Cirrhosis | c.1127-2 A > G, p.? c.2840 A > G, p.Gln947Arg | Split site mu Missense | Short stature | Present report |