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Medical Genetics Unit, St George's Hospital Medical School, Tooting, London SW17 0RE, UK
Correspondence to: Dr Heathcote
Revised version received 22 July 1999;
Accepted for publication 27 August 1999
We report a missense mutation in the connexin 26 gene
(GJB2) in a family with an autosomal
dominant syndrome of hearing loss and hyperkeratosis. The affected
family members have high frequency, slowly progressive, bilateral,
sensorineural hearing loss and palmoplantar hyperkeratosis. The
mutation causes an amino acid substitution (G59A), which may disrupt a
reverse turn in the first extracellular loop of connexin 26. Connexin
26 mutations have been reported in syndromes of deafness and
palmoplantar keratoderma. These data provide additional evidence for
the role of connexin 26 in syndromes of this type.
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