First Case in Lithuania of an Autosomal Recessive Mutation in the DNAJC30 Gene as a Cause of Leber’s Hereditary Optic Neuropathy
Abstract
1. Background
2. Case Report
3. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
Abbreviations
ACMG | American College of Medical Genetics and Genomics |
arLHON | autosomal recessive LHON |
LHON | Leber’s hereditary optic neuropathy |
mtLHON | mitochondrial LHON |
NGS | next-generation sequencing |
OCT | Optical coherence tomography |
RGCs | retinal ganglion cells |
RNFL | retinal nerve fiber layer |
WES | whole exome sequencing |
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Date | Event |
---|---|
December 2018 | Onset of visual symptoms, Retrobulbar neuritis of the right eye was suspected, and intravenous methylprednisolone pulse therapy was administered for three consecutive days, followed by oral prednisolone. |
March 2019 | DNA extracted; mtDNA genome testing performed (suspected LHON)—no mutations detected |
December 2020 | NGS panel for optic nerve atrophy-related genes |
June 2021 | Reanalysis of genetic data; pathogenic autosomal recessive DNAJC30 mutation identified |
August 2021 | Diagnosis of arLHON confirmed |
From October 2021 | Idebenone treatment initiated shortly after genetic confirmation, 300 mg three times a day (900 mg daily) |
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Sereikaite, L.; Vilkeviciute, A.; Glebauskiene, B.; Traberg, R.; Gelzinis, A.; Piskiniene, R.; Zemaitiene, R.; Ugenskiene, R.; Liutkeviciene, R. First Case in Lithuania of an Autosomal Recessive Mutation in the DNAJC30 Gene as a Cause of Leber’s Hereditary Optic Neuropathy. Genes 2025, 16, 993. https://doi.org/10.3390/genes16090993
Sereikaite L, Vilkeviciute A, Glebauskiene B, Traberg R, Gelzinis A, Piskiniene R, Zemaitiene R, Ugenskiene R, Liutkeviciene R. First Case in Lithuania of an Autosomal Recessive Mutation in the DNAJC30 Gene as a Cause of Leber’s Hereditary Optic Neuropathy. Genes. 2025; 16(9):993. https://doi.org/10.3390/genes16090993
Chicago/Turabian StyleSereikaite, Liveta, Alvita Vilkeviciute, Brigita Glebauskiene, Rasa Traberg, Arvydas Gelzinis, Raimonda Piskiniene, Reda Zemaitiene, Rasa Ugenskiene, and Rasa Liutkeviciene. 2025. "First Case in Lithuania of an Autosomal Recessive Mutation in the DNAJC30 Gene as a Cause of Leber’s Hereditary Optic Neuropathy" Genes 16, no. 9: 993. https://doi.org/10.3390/genes16090993
APA StyleSereikaite, L., Vilkeviciute, A., Glebauskiene, B., Traberg, R., Gelzinis, A., Piskiniene, R., Zemaitiene, R., Ugenskiene, R., & Liutkeviciene, R. (2025). First Case in Lithuania of an Autosomal Recessive Mutation in the DNAJC30 Gene as a Cause of Leber’s Hereditary Optic Neuropathy. Genes, 16(9), 993. https://doi.org/10.3390/genes16090993