Table 1.
SLC39A8 allelic variants found to be associated with clinical disorders
| cDNA | Protein | Phenotype | Reference(s) |
|---|---|---|---|
| c.97G > A | p.Val33Met | (?)Dysmorphogenesis; Mn-deficient hypoglycosylation | [17] |
| c.112G > C | p.Gly38Arg | Dysmorphogenesis; Mn-deficient hypoglycosylation | [17, 47] |
| c.338G > C | p.Cys113Ser | Dysmorphogenesis; Mn-deficient hypoglycosylation; Leigh-like mitochondrial disease | [20] |
| c.610G > T | p.Gly204Cys | Dysmorphogenesis; hypoglycosylation | [17] |
| c.1004G > C | p.Ser335Thr | (?)Dysmorphogenesis; hypoglycosylation | [17] |
| c.1019 T > A | p.Ile340Asn | Dysmorphogenesis; hypoglycosylation | [17] |
| c.1172C > T | p.Ala391Thr | Lower serum HDL-Chol levels | [48–50] |
| Increased risk of coronary artery disease | [51] | ||
| Increased body mass index (BMI) | [52, 53] | ||
| Increased risk of (systolic & diastolic) hypotension | [54] | ||
| Increased risk of dilated cardiomyopathy | [55] | ||
| Smoking-induced atherosclerotic plaques | [56] | ||
| Elevated NT-proBNP levels | [57] | ||
| Increased risk of acute coronary syndrome | [57] | ||
| Increased risk of cardiovascular death | [57] | ||
| Increased risk of liver inflammation and fibrosis | [58] | ||
| Increased bronchodilator response to albuterol | [44] | ||
| Increased plasma VWF levels, risk of ischemic stroke | [59] | ||
| Increased risk of schizophrenia | [50, 60, 61] | ||
| Increased risk of Parkinson disease | [50] | ||
| Increased risk of Crohn disease | [50, 62] | ||
| Increased risk of myopia | [50] | ||
| Increased risk of allergy | [50] | ||
| Decreased height | [50, 53] | ||
| Increased risk of inflammatory bowel disease | [50] | ||
| Increased risk of cerebrovascular disease | [63] | ||
| Increased risk of adolescent idiopathic scoliosis | [53] | ||
| Increased risk of SLE-primary-Sjögren syndrome | [64] | ||
| microRNA 488 targeting of SLC39A8 mRNA | Inadvertent participation in the inflammatory progression of OA | [65] |
The two question marks “(?)” denote variants seen in one patient who had two SLC39A8 mutations on one chromosome; thus, until these individual amino acid changes are tested independently, it remains unknown which mutation(s) is(are) responsible for the hypomanganesemia and other observed pleiotropic effects in that patient (see text for details). NT-proBNP N-terminal pro-B-type natriuretic peptide, VWF von Willebrand factor, SLE systemic lupus erythematosus, OA osteoarthritis