First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature
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...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2021-04, Vol.185 (4), p.1236-1241 |
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| container_issue | 4 |
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| container_title | American journal of medical genetics. Part A |
| container_volume | 185 |
| creator | Bartlett, Michelle Nasiri, Nima Pressman, Rena Bademci, Guney Forghani, Irman |
| description | 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. |
| doi_str_mv | 10.1002/ajmg.a.62073 |
| format | Article |
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| identifier | ISSN: 1552-4825 |
| ispartof | American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1236-1241 |
| issn | 1552-4825 1552-4833 |
| language | eng |
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| source | Wiley Online Library Journals Frontfile Complete |
| subjects | ACBD5 Case reports cone‐rod dystrophy Leukodystrophy Lipid metabolism Organelles Peroxisomes RDLKD Retina Retinal degeneration spastic paraplegia Spasticity white matter disease |
| title | First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature |
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