Biallelic <scp> <i>TMEM126B</i> </scp> Variants as a Novel Cause of Kidney Failure—Implications for Mitochondrial Genetic Testing in Nephrology
An adult with kidney failure had compound-heterozygous TMEM126B variants causing mitochondrial complex I deficiency. This expands TMEM126B to mitochondrial nephropathy and supports including mitochondrial genes in renal genetic testing.
Authors
- Thomas M. Kitzler (ORCID: https://orcid.org/0009-0006-1537-5237)
- Daniela Buhaş (ORCID: https://orcid.org/0000-0002-9688-4677)
- Andrey V. Cybulsky (ORCID: https://orcid.org/0000-0003-4348-2348)
- Zachary T. Sentell (ORCID: https://orcid.org/0000-0001-6005-7111)
- Rita S. Suri (ORCID: https://orcid.org/0000-0002-0519-3927)
- Anthony C T Cheung
- Felicia Russo (ORCID: https://orcid.org/0000-0001-6489-5817)
- Chantal Bernard
Institutions
- McGill University Health Centre (CA)
- McGill University (CA)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2025-09-19
- DOI
- https://doi.org/10.1111/cge.70073
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00