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GJB2-pEDD

Previously: Keratoderma with deafness

pEDD Gene: GJB2 AD

Onset: Childhood

Pathway: Channels

Category Paper: pEDD Paper

Key Clinical Clues

Diffuse PPK, hearing loss.

Additional Cutaneous Features

Diffuse PPK

Additional Extracutaneous Features

Hearing loss

Treatment

Potential for antisense oligonucleotides, mAbs (Mammano, 2024).

References

Richard G, White TW, Smith LE et al. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 1998; 103:393-9.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer

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This is a reference resource for clinicians and researchers. It is not medical advice or a diagnostic tool.

The database is still being verified and entries may be incomplete. Do not rely on it without independent professional judgement.

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