Table 1.
Identified human cases of ZIP8 mutation.
| Subject and Reference | ZIP8 Mutation | Amino Acid Change | Gender | Age of Onset | Blood Manganese |
|---|---|---|---|---|---|
| A-1 ƒ § Ç [30] |
c.[112G>C];[112G>C] | p.[Gly38Arg] | F | Birth | ND |
| B-1 ƒ § Ç [30] |
c.[112G>C];[112G>C] | p.[Gly38Arg] | M | Birth | 20 nmol/L (Erythrocyte) (NR 273–728) |
| C-1 ƒ § Ç [30] |
c.[112G>C];[112G>C] | p.[Gly38Arg] | M | Birth | 20 nmol/L (NR 78–289) |
| D-1 ƒ § Ç [30] |
c.[112G>C];[112G>C] | p.[Gly38Arg] | F | Birth | 14.2 nmol/L (NR 5.3–40.8) |
| D-2 ƒ § Ç [30] |
c.[112G>C];[112G>C] | p.[Gly38Arg] | F | Birth | 5.5 nmol/L (NR 5.3–40.8) |
| E-1 ƒ § Ç [30] |
c.[112G>C];[112G>C] | p.[Gly38Arg] | M | Birth | 18.4 nmol/L (NR 5.3–40.8) |
| F-1 ƒ § Ç [30] |
c.[112G>C];[112G>C] | p.[Gly38Arg] | F | Birth | 1.1 mcg/L (NR 5–12.4) |
| F-2 ƒ § Ç [30] |
c.[112G>C];[112G>C] | p.[Gly38Arg] | M | Birth | 1.1 mcg/L (NR 5–12.4) |
| F-3 ƒ § Ç [30] |
† | † | N/A | Birth | N/A |
| G-1 £ [31] |
c.[112G>C];[1019T>A] | p.[Gly38Arg];[Ile340Asn] | F | <4 months | ND |
| H-2 £ [31] |
c.[97G>A;1004G>C];[610G>T] | p.[Val33Met; Ser335Thr]; [Gly204Cys] |
F | <1 year | ND |
| I-1 § Ç [38] |
c.[338G>C];[338G>C] | p.[Cys113Ser] | F | 4 months | ND |
| I-2 § Ç [38] |
c.[338G>C];[338G>C] | p.[Cys113Ser] | F | 3 months | ND |
Individual families are letters A–I with affected sibling listed. Abbreviations and symbols: Not detectable (ND); normal range (NR); male (M); female (F); †: DNA was not available for testing from the third affected member due to death at 7 months. The individual may have been affected by the same disorder and genetic mutation; ƒ: the mutation was present in two different families; £: expressed compound heterozygous mutations; §: both parents are heterozygous carriers of the identified mutation; Ç: patients from consanguineous families.