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Neuroscience› Sensory Systems› Hearing, Cochlea, Tinnitus, Genetics

Hereditary hearing loss — KCNJ10 and FOXI1 as second-hit genes in Pendred syndrome

Submitted 2026-10-22

Field: Neuroscience › Sensory SystemsType: No effect foundArea: hereditary hearing lossTarget: KCNJ10 and FOXI1 as second-hit genes in Pendred syndromeStage: full study

Hypothesis

Patients with Pendred syndrome or enlarged vestibular aqueducts who carry only one SLC26A4 mutation would carry a second, digenic mutation in KCNJ10 or FOXI1.

What failed

Sequencing 68 patients with monoallelic SLC26A4 mutations found only two KCNJ10 variants (in four patients) and one FOXI1 variant (in one patient), and the KCNJ10 variants are probably common polymorphisms. There was no evidence of a significant association.

Broken assumption

Mutations in KCNJ10 or FOXI1 supply the missing second hit in SLC26A4-heterozygous Pendred syndrome.

Why

The abstract does not offer an alternative explanation for the missing second mutation; it reports only that these two genes do not account for it.

From the published paper: Landa et al. BMC Medical Genetics, 2013. ↗CC BY

Research ideas from this failure

Unvetted lead — read the papers

New hypotheses this failure suggests, each with a crucial experiment, a rival explanation of the original result, and the papers it rests on. Written by AI from paper titles and abstracts found on OpenAlex (and Europe PMC, for life and health sciences).

Related failures

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Links in published research

Where this experiment's genes are known to matter outside its own research area, and the papers behind those links. Sources: Open Targets Platform and Europe PMC.