SLC39A8 gene encoding a metal ion transporter: discovery and bench to bedside

Nebert, Daniel W.; Liu, Zijuan

doi:10.1186/s40246-019-0233-3

Human Genomics

Table 1 SLC39A8 allelic variants found to be associated with clinical disorders

From: SLC39A8 gene encoding a metal ion transporter: discovery and bench to bedside

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	[48,49,50]
		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

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ISSN: 1479-7364

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