Gene analysis of epidermal gap junction and pathological search for palmoplantar hyperkeratosis associated with hearing impairments

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We have experienced a mother and her son suffering from palmoplantar hyperkeratosis with hearing impairments and also some unrelated patients. Even though they showed clinical symptoms identified to be almost same as the reported cases with mutations within mitochondria DNA or Connexin (Cx) genes coding of gap junctions, we cannot found any mutations in those reported genes. In conventional 2D culture condition of keratinocytes, no significant differences were observed between patient- derived and control cells in proliferation and differentiation. Even in 3D culture system, any impairments in patient- derived cells and significant difference in Cx gene expression were not observed.