Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients
The diagnostic yield was higher in the hereditary HL and monogenic diabetes groups than in the general diabetes group. Implementation of rigorous inclusion criteria requiring the presence of both diabetes and HL may lead to a lower detection rate due to different or incomplete phenotype manifestation. Age-adjusted blood heteroplasmy levels seem to be a good predictor of overall severity of m.3243A>G-associated diseases, but buccal mucosa heteroplasmy predicted the age of HL and diabetes onset better.
Authors
- Lukáš Varga (ORCID: https://orcid.org/0000-0001-9141-3596)
- Martina Škopková (ORCID: https://orcid.org/0000-0001-7927-9777)
- Vibhuti Rambani (ORCID: https://orcid.org/0009-0008-3647-3965)
- Terezia Kickova (ORCID: https://orcid.org/0000-0003-4706-7299)
- D Ugorová
- Marek Sklenar (ORCID: https://orcid.org/0009-0003-6066-4829)
- Klaudia Cipkova (ORCID: https://orcid.org/0009-0003-0141-1354)
- Juraj Stanik
- Zuzana Kabatova
- Milan Profant
- Silvia Borecka
Institutions
- Slovak Academy of Sciences (SK)
- National Institute of Cardiovascular Diseases (SK)
- University Hospital Bratislava (SK)
- Institute of Experimental Endocrinology of the Slovak Academy of Sciences (SK)
- Zero to Three (US)
- Comenius University Bratislava (SK)
Publication Details
- Journal
- Ear and Hearing
- Published
- 2026-02-10
- DOI
- https://doi.org/10.1097/aud.0000000000001780
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00