First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature.
ACBD5
RDLKD
cone-rod dystrophy
spastic paraplegia
white matter disease
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
revised:
11
12
2020
received:
16
09
2020
accepted:
30
12
2020
pubmed:
12
1
2021
medline:
4
8
2021
entrez:
11
1
2021
Statut:
ppublish
Résumé
Peroxisomes play an essential role in lipid metabolism via interaction with other intracellular organelles. The information about the role of the Acyl-CoA-binding domain containing-protein 5 (ACBD5) in these interactions in human cells is emerging. Moreover, a few patients with retinal dystrophy and leukodystrophy caused by pathogenic variants in ACBD5 have been recently introduced. Here, we present a 36-year-old female with retinal dystrophy, leukodystrophy, and psychomotor regression due to a novel homozygous variant in ACBD5. Our study adds to the growing knowledge of this peroxisomal disorder by providing phenotypic details of the first adult patient.
Identifiants
pubmed: 33427402
doi: 10.1002/ajmg.a.62073
doi:
Substances chimiques
ACBD5 protein, human
0
Adaptor Proteins, Signal Transducing
0
Membrane Proteins
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1236-1241Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
Abu-Safieh, L., Alrashed, M., Anazi, S., Alkuraya, H., Khan, A. O., Al-Owain, M., … Alkuraya, F. S. (2013). Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Research, 23(2), 236-247. https://doi.org/10.1101/gr.144105.112
Braverman, N. E., & Moser, A. B. (2012). Functions of plasmalogen lipids in health and disease. Biochimica et Biophysica Acta, 1822(9), 1442-1452. https://doi.org/10.1016/j.bbadis.2012.05.008
Costello, J. L., Castro, I. G., Hacker, C., Schrader, T. A., Metz, J., Zeuschner, D., … Schrader, M. (2017). ACBD5 and VAPB mediate membrane associations between peroxisomes and the ER. The Journal of Cell Biology, 216(2), 331-342. https://doi.org/10.1083/jcb.201607055
Ferdinandusse, S., Falkenberg, K. D., Koster, J., Mooyer, P. A., Jones, R., van Roermund, C. W. T., … Waterham, H. R. (2017). ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. Journal of Medical Genetics, 54(5), 330-337. https://doi.org/10.1136/jmedgenet-2016-104132
Helman, G., Lajoie, B. R., Crawford, J., Takanohashi, A., Walkiewicz, M., Dolzhenko, E., … Vanderver, A. (2020). Genome sequencing in persistently unsolved white matter disorders. Annals of Clinical and Translational Neurology, 7(1), 144-152. https://doi.org/10.1002/acn3.50957.
Herzog, K., Pras-Raves, M. L., Ferdinandusse, S., Vervaart, M. A. T., Luyf, A. C. M., van Kampen, A. H. C., … Vaz, F. M. (2018). Functional characterisation of peroxisomal beta-oxidation disorders in fibroblasts using lipidomics. Journal of Inherited Metabolic Disease, 41(3), 479-487. https://doi.org/10.1007/s10545-017-0076-9
Hua, R., Cheng, D., Coyaud, E., Freeman, S., Di Pietro, E., Wang, Y., … Kim, P. K. (2017). VAPs and ACBD5 tether peroxisomes to the ER for peroxisome maintenance and lipid homeostasis. The Journal of Cell Biology, 216(2), 367-377. https://doi.org/10.1083/jcb.201608128
Islinger, M., Costello, J. L., Kors, S., Soupene, E., Levine, T. P., Kuypers, F. A., & Schrader, M. (2020). The diversity of ACBD proteins-From lipid binding to protein modulators and organelle tethers. Biochimica et Biophysica Acta - Molecular Cell Research, 1867(5), 118675. https://doi.org/10.1016/j.bbamcr.2020.118675
Kemp, S., Berger, J., & Aubourg, P. (2012). X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1822(9), 1465-1474. http://dx.doi.org/10.1016/j.bbadis.2012.03.012
Neess, D., Bek, S., Engelsby, H., Gallego, S. F., & Faergeman, N. J. (2015). Long-chain acyl-CoA esters in metabolism and signaling: Role of acyl-CoA binding proteins. Progress in Lipid Research, 59, 1-25. https://doi.org/10.1016/j.plipres.2015.04.001
Raymond, G. V., Moser, A. B., & Fatemi, A. (2020). X-linked adrenoleukodystrophy. In M. P. Adam, H. H. Ardinger, & R. A. Pagon (Eds.), GeneReviews [Internet]. Seattle, WA: University of Washington https://www.ncbi.nlm.nih.gov/books/NBK1315/
Retterer, K., Scuffins, J., Schmidt, D., Lewis, R., Pineda-Alvarez, D., Stafford, A., … Haverfield, E. (2015). Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort. Genetics in Medicine, 17(8), 623-629. https://doi.org/10.1038/gim.2014.160
Wanders, R. J. (2014). Metabolic functions of peroxisomes in health and disease. Biochimie, 98, 36-44. https://doi.org/10.1016/j.biochi.2013.08.022
Wanders, R. J. A. (2018). Peroxisomal disorders: Improved laboratory diagnosis, new defects and the complicated route to treatment. Molecular and Cellular Probes, 40, 60-69. https://doi.org/10.1016/j.mcp.2018.02.001
Wanders, R. J. A. & Waterham, H. R. (2006). Biochemistry of Mammalian Peroxisomes Revisited.
Waterham, H. R., Ferdinandusse, S., & Wanders, R. J. (2016). Human disorders of peroxisome metabolism and biogenesis. Biochimica et Biophysica Acta, 1863(5), 922-933. https://doi.org/10.1016/j.bbamcr.2015.11.015
Yagita, Y., Shinohara, K., Abe, Y., Nakagawa, K., Al-Owain, M., Alkuraya, F. S., & Fujiki, Y. (2017). Deficiency of a retinal dystrophy protein, acyl-CoA binding domain-containing 5 (ACBD5), impairs peroxisomal beta-oxidation of very-long-chain fatty acids. The Journal of Biological Chemistry, 292(2), 691-705. https://doi.org/10.1074/jbc.M116.760090