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First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature
Author(s) -
Bartlett Michelle,
Nasiri Nima,
Pressman Rena,
Bademci Guney,
Forghani Irman
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62073
Subject(s) - leukodystrophy , peroxisomal disorder , peroxisome , biology , retinal , dystrophy , phenotype , organelle , psychomotor learning , genetics , medicine , neuroscience , disease , pathology , biochemistry , gene , cognition
Abstract 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.