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Article

Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.

European journal of medical genetics - 1 Sept 2023

Mauring L, Puusepp S, Parik M, Roomets E, Teek R, Reimand T, Pajusalu S, Kaljurand K, Õunap K

Abstract excerpt

Recently, Stenton et al. (2021) described a new, autosomal recessive inheritance pattern of Leber's hereditary optic neuropathy (LHON) caused by missense variants in the DNAJC30 gene. The DNAJC30 c.152A > G, p.(Tyr51Cys) variant was by far the most common variant reported in patients originating from Eastern Europe, therefore, it is believed to be a founder variant in these populations. We report the first two...

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Identifiers

PMID: 37579815
DOI: 10.1016/j.ejmg.2023.104821

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