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Case report: ‘AARS2 leukodystrophy’
BACKGROUND: Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is considered ultra-rare with only 39 cases of AARS2-...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280508/ https://www.ncbi.nlm.nih.gov/pubmed/34285876 http://dx.doi.org/10.1016/j.ymgmr.2021.100782 |
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author | Axelsen, Tobias Melton Vammen, Tzvetelina Lubenova Bak, Mads Pourhadi, Nelsan Stenør, Christian Midtgaard Grønborg, Sabine |
author_facet | Axelsen, Tobias Melton Vammen, Tzvetelina Lubenova Bak, Mads Pourhadi, Nelsan Stenør, Christian Midtgaard Grønborg, Sabine |
author_sort | Axelsen, Tobias Melton |
collection | PubMed |
description | BACKGROUND: Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is considered ultra-rare with only 39 cases of AARS2-leukodystrophy previously reported. CASE PRESENTATION: We present the case of a young man of consanguineous heritage suffering from cognitive decline and progressive spasticity as well as weakness of the proximal musculature. Utilizing MRI and whole genome sequencing, the patient was diagnosed with a homozygous AARS2 missense variant (NM_020745.3:c.650C > T; p.(Pro217Leu)) and a homozygous CAPN3 variant (NM_000070.2: c.1469G > A; p.(Arg490Gln)), both variants have previously been identified in patients suffering from AARS2 related leukodystrophy and limb-girdle muscular dystrophy, respectively. CONCLUSIONS: This case report presents a case of homozygous AARS2 leukodystrophy and serves to highlight the importance of whole genome sequencing in diagnosing rare neurological diseases as well as to add to the awareness of adult onset leukodystrophies. |
format | Online Article Text |
id | pubmed-8280508 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-82805082021-07-19 Case report: ‘AARS2 leukodystrophy’ Axelsen, Tobias Melton Vammen, Tzvetelina Lubenova Bak, Mads Pourhadi, Nelsan Stenør, Christian Midtgaard Grønborg, Sabine Mol Genet Metab Rep Case Report BACKGROUND: Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is considered ultra-rare with only 39 cases of AARS2-leukodystrophy previously reported. CASE PRESENTATION: We present the case of a young man of consanguineous heritage suffering from cognitive decline and progressive spasticity as well as weakness of the proximal musculature. Utilizing MRI and whole genome sequencing, the patient was diagnosed with a homozygous AARS2 missense variant (NM_020745.3:c.650C > T; p.(Pro217Leu)) and a homozygous CAPN3 variant (NM_000070.2: c.1469G > A; p.(Arg490Gln)), both variants have previously been identified in patients suffering from AARS2 related leukodystrophy and limb-girdle muscular dystrophy, respectively. CONCLUSIONS: This case report presents a case of homozygous AARS2 leukodystrophy and serves to highlight the importance of whole genome sequencing in diagnosing rare neurological diseases as well as to add to the awareness of adult onset leukodystrophies. Elsevier 2021-07-13 /pmc/articles/PMC8280508/ /pubmed/34285876 http://dx.doi.org/10.1016/j.ymgmr.2021.100782 Text en © 2021 The Authors. Published by Elsevier Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Axelsen, Tobias Melton Vammen, Tzvetelina Lubenova Bak, Mads Pourhadi, Nelsan Stenør, Christian Midtgaard Grønborg, Sabine Case report: ‘AARS2 leukodystrophy’ |
title | Case report: ‘AARS2 leukodystrophy’ |
title_full | Case report: ‘AARS2 leukodystrophy’ |
title_fullStr | Case report: ‘AARS2 leukodystrophy’ |
title_full_unstemmed | Case report: ‘AARS2 leukodystrophy’ |
title_short | Case report: ‘AARS2 leukodystrophy’ |
title_sort | case report: ‘aars2 leukodystrophy’ |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280508/ https://www.ncbi.nlm.nih.gov/pubmed/34285876 http://dx.doi.org/10.1016/j.ymgmr.2021.100782 |
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