ACBD5-related retinal dystrophy with leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency.

Autor: Rudaks LI; Concord Repatriation General Hospital, Concord, Australia.; Royal North Shore Hospital, St Leonards, Australia.; Faculty of Medicine, University of Sydney, Camperdown, Australia., Triplett J; Concord Repatriation General Hospital, Concord, Australia.; Faculty of Medicine, University of Sydney, Camperdown, Australia., Morris K; Concord Repatriation General Hospital, Concord, Australia.; Royal North Shore Hospital, St Leonards, Australia.; Faculty of Medicine, University of Sydney, Camperdown, Australia., Reddel S; Concord Repatriation General Hospital, Concord, Australia.; Faculty of Medicine, University of Sydney, Camperdown, Australia., Worgan L; Concord Repatriation General Hospital, Concord, Australia.; Faculty of Medicine, University of Sydney, Camperdown, Australia.; Royal Prince Alfred Hospital, Camperdown, Australia.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 346-350. Date of Electronic Publication: 2023 Oct 03.
DOI: 10.1002/ajmg.a.63433
Abstrakt: Acyl-CoA-binding domain-containing protein 5-related retinal dystrophy with leukodystrophy (ACBD5) is a peroxisomal disorder due to deficiency of ACBD5. Presenting features include retinal dystrophy, progressive leukodystrophy, and ataxia. Only seven cases of ACBD5-related retinal dystrophy have been reported in the literature to date, including one other case diagnosed in adulthood. Here we report a case with novel compound heterozygous ACBD5 mutations, presenting with the common features of rod monochromatism and progressive leukodystrophy with spasticity and ataxia. Additional novel clinical features included head and neck tremor and ovarian insufficiency. The patient's symptoms were present since infancy, but a diagnosis was only reached in adulthood when whole exome sequencing was performed. This case, which reports two novel mutations and additional clinical manifestations, contributes to the emerging phenotype of ACBD5-related retinal dystrophy with leukodystrophy, and delineation of the natural history and disease progression.
(© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
Databáze: MEDLINE
Externí odkaz: