Early-onset Parkinson disease

Gene: SLC30A10

Green List (high evidence)

During manganese intoxication, the metal accumulates in the liver, muscle, and brain, and causes a neurologic disorder (manganism) bearing similarities to dystonia (MIM 128100) and Parkinson's disease (MIM 168600) (manganese-induced parkinsonism) (PMID: 22341971).

Two consanguineous families with juvenile-onset dystonia, adult-onset parkinsonism, severe hypermanganesemia, polycythemia, and chronic hepatic disease. Researchers identified two different homozygous frameshift SLC30A10 mutations, segregating with disease (PMID: 22341971).

Two consanguineous families were identified with homozygous SLC30A10 variants in all affected individuals. Yeast expression studies showed identified variants, missense (c.266T>C [p.Leu89Pro]) and nonsense (c.585del [p.Thr196Profs∗17]) mutations in SLC30A10, prevented growth in a high Mn concentration environment (PMID: 22341972).

Created: 7 Sep 2023, 4:17 a.m. | Last Modified: 7 Sep 2023, 4:17 a.m.

Panel Version: 0.264

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypermanganesemia with dystonia 1 (MIM# 613280)

Publications

• 22341971
• 22341972