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Lookup NU author(s): Dr Mahmoud FassadORCiD, Dr Monika Olahova, Dr Jack Collier, Charlotte Knowles, Eleni Mavraki, Professor Bobby McFarlandORCiD, Professor Robert TaylorORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2025 The Author(s). Clinical Genetics published by John Wiley & Sons Ltd.Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity. Genomic testing is increasingly used as the first step in the diagnostic pathway for mitochondrial diseases. We used next-generation sequencing followed by bioinformatic data analysis to identify potentially damaging variants in the POLRMT gene (NM_005035.4) in six new affected individuals. Structural protein analysis predicted the detrimental impact of variants on POLRMT protein structure. Patients show extended phenotypic abnormalities often presenting early in life with features including global developmental delay, cognitive impairment, short stature and muscular hypotonia. This study expands the genetic and phenotypic landscape of mitochondrial disease associated with POLRMT variants.
Author(s): Fassad MR, Valenzuela S, Olahova M, Collier JJ, Knowles CVY, Mavraki E, Elbracht M, Guzel N, Herberhold T, Kurth I, Maier A, Mattern L, Saunders C, McCullagh H, Ounap K, Wortmann SB, Reis A, Zhang L, Gustafsson CM, McFarland R, Taylor RW
Publication type: Article
Publication status: Published
Journal: Clinical Genetics
Year: 2025
Pages: epub ahead of print
Online publication date: 29/06/2025
Acceptance date: 14/06/2025
Date deposited: 14/07/2025
ISSN (print): 0009-9163
ISSN (electronic): 1399-0004
Publisher: John Wiley and Sons Inc
URL: https://doi.org/10.1111/cge.70011
DOI: 10.1111/cge.70011
Data Access Statement: The data that supports the findings of this study are available in Supporting Information Material of this article.
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