Clinical case of a rare neurodegenerative disease with iron accumulation in the brain, type 4, in a 15-year-old child

Author:

Fedoseeva I. F.1ORCID,Poponnikova T. V.1ORCID,Galieva G. Yu.2,Moschnegootz S. V.2

Affiliation:

1. Kemerovo State Medical University

2. Kemerovo Regional Clinical Hospital

Abstract

The authors presented f clinical and genetic description and analysis of a rare autosomal recessive neurodegenerative disease with an accumulation of iron in the brain, type 4. The disease began in adolescence and has a slowly progressive course. The diagnosis was confirmed by magnetic resonance imaging and molecular genetic analysis. The author found two compound heterozygous mutations in the C19оrf12 gene: in exon 3 (chr 19: 30193873C>T, rs515726205), leading to a substitution of the amino acid in the 69th position of the protein (p.Gly69Arg, NM_001031726.3), and the mutation in the 3rd exon (chr19: 30193806A>T) not described earlier, resulting in the replacement of the amino acid in 91 positions of the protein (p.Lеu91Gln, NM_001031726.3).

Publisher

The National Academy of Pediatric Science and Innovation

Subject

Pediatrics, Perinatology, and Child Health

Reference7 articles.

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