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DNAJC19 Associated Optic Neuropathy
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DOI：10.1080/01658107.2026.2660194.png)
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Abstract
En 中文
Hereditary optic neuropathies comprise a heterogeneous spectrum of disorders, either isolated or syndromic, often linked to mitochondrial dysfunction. DNAJC19 encodes for a mitochondrial protein that plays a critical role in the import of precursor protein across the inner-membrane and maintains membrane stability. Pathogenic variants in DNAJC19, classically associated with dilated cardiomyopathy with ataxia (DCMA) syndrome, while optic neuropathy was only rarely reported. We describe a consanguineous family with two affected male siblings harboring a novel homozygous DNAJC19 variant (NM_145261.3:c.248G>A) and presenting with a neuro-mitochondrial phenotype characterized by early-onset cerebellar ataxia, neurodevelopmental delay, and optic neuropathy, with intrafamilial variability in severity. This report expands the clinical spectrum of DNAJC19 mutations and suggests that dysfunction of this mitochondrial import mechanism can lead to ganglion cell loss and optic atrophy. Recognition of this phenotype has implications for differentiating DCMA from other hereditary optic neuropathies such Leber hereditary optic neuropathy and will aid diagnosis and genetic counseling.
Keywords:
DNAJC19
COA3
optic neuropathy
optic atrophy
mitochondrial disease
hereditary optic neuropathy