Clinical case of a rare neurodegenerative disease with iron accumulation in the brain, type 4, in a 15-year-old child
https://doi.org/10.21508/1027-4065-2019-64-5-109-113
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).
About the Authors
I. F. Fedoseeva
Kemerovo State Medical University
Russian Federation
Russian Federation
Kemerovo
T. V. Poponnikova
Kemerovo State Medical University
Russian Federation
Kemerovo
Russian Federation
Kemerovo
G. Yu. Galieva
Kemerovo Regional Clinical Hospital
Russian Federation
Kemerovo
Russian Federation
Kemerovo
S. V. Moschnegootz
Kemerovo Regional Clinical Hospital
Russian Federation
Kemerovo
Russian Federation
Kemerovo
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Review
For citations:
Fedoseeva I.F., Poponnikova T.V., Galieva G.Yu., Moschnegootz S.V. Clinical case of a rare neurodegenerative disease with iron accumulation in the brain, type 4, in a 15-year-old child. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2019;64(5):109-113. (In Russ.) https://doi.org/10.21508/1027-4065-2019-64-5-109-113
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