Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients.
Lukas Varga, Silvia Borecka, Martina Skopkova and 9 others
PMID 41664274WHAT IT FOUND
Testing for maternally inherited diabetes and deafness found the m.3243A>G variant in 0.79% of people with hereditary hearing loss and 1.68% of people with suspected monogenic diabetes, including people with only one symptom.
Key findings
01The m.3243A>G variant was found in 0.79% of the hereditary hearing loss group, 1.68% of the monogenic diabetes group, and 0.14% of the general diabetes group.
02Among 63 carriers, hearing loss was confirmed in 36 subjects, and severity was associated with age-adjusted blood heteroplasmy rather than buccal heteroplasmy.
03Three cochlear implant users achieved at least 50% word discrimination in noise and auditory performance scores of 6 to 7; the stapedotomy case had stable hearing after 3 years.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The three groups were assembled with different inclusion criteria, so hearing status was not consistently available across all carriers. In the general diabetes group, hearing status was not questioned initially, and some hearing data came only from questionnaires. Some carriers could not be recontacted for full clinical phenotyping, so the hearing loss prevalence may be underestimated. The phenotype score was created for this study and not validated elsewhere. The cochlear implant findings come from 3 people, and the stapedotomy finding comes from a single case, so they cannot establish treatment effectiveness. The otosclerosis case may be coincidental; the paper does not establish a causal link between otosclerosis and the variant. Prevalence estimates depend on the heteroplasmy detection threshold and the selected patient groups, not the general population.
Declared interests
Funding was reported from Agentúra na Podporu Výskumu a Vývoja and Agentúra Ministerstva školstva, vedy, výskumu a športu SR. The supplied text does not include a conflict-of-interest statement.
The easy way to misread this
Do not conclude that cochlear implantation or stapedotomy is proven for all m.3243A>G carriers. The cochlear implant results come from 3 people, and the stapedotomy result is a single case report.
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