<scp><i>BCS1L</i></scp>‐Associated Disease: 5′‐<scp>UTR</scp> Variant Shifts the Phenotype Towards Axonal Neuropathy

This study expands the clinical spectrum of BCS1L-related disorders to include a comparatively milder phenotype with central and peripheral nervous system involvement. Our findings demonstrate that the 5'-UTR variant modulates disease severity by enabling residual wild-type BCS1L expression, partially mitigating the pathogenic effects of the missense variant. These insights underscore the importance of evaluating both protein coding and regulatory variants in mitochondrial disease diagnostics and pathogenesis.

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Publication Details

Journal
Annals of Clinical and Translational Neurology
Published
2025-07-14
DOI
https://doi.org/10.1002/acn3.70108
Primary Topic
Mitochondrial Function and Pathology
Type
article
Field-Weighted Citation Impact
0.00

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article

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Tracey A. Rouault, Sandra Donkervoort, Tanya Lehky, Katherine R. Chao et al.
Annals of Clinical and Translational Neurology
Mitochondrial Function and Pathology
article

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Tracey A. Rouault, Sandra Donkervoort, Tanya Lehky, Katherine R. Chao, Carsten G. Bönnemann, Rotem Orbach, Russell J. Butterfield, Nunziata Maio, A. Reghan Foley, A. Potticary, Yan Li, Sarah Silverstein
article en

Abstract

This study expands the clinical spectrum of BCS1L-related disorders to include a comparatively milder phenotype with central and peripheral nervous system involvement. Our findings demonstrate that the 5'-UTR variant modulates disease severity by enabling residual wild-type BCS1L expression, partially mitigating the pathogenic effects of the missense variant. These insights underscore the importance of evaluating both protein coding and regulatory variants in mitochondrial disease diagnostics and pathogenesis.

Annals of Clinical and Translational NeurologyVol. 12(9)
Broad Institute (US), National Institutes of Health (US), University of Utah (US), University of Utah Hospital (US), National Institute of Neurological Disorders and Stroke (US), Eunice Kennedy Shriver National Institute of Child Health and Human Development (US)
Broad Institute, National Institutes of Health, National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Openalex Percentile: Top 85%
Mitochondrial Function and Pathology
DOIOpen Access PDFOpenAlex
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