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A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation.
- Source :
-
The Journal of investigative dermatology [J Invest Dermatol] 2004 Aug; Vol. 123 (2), pp. 291-3. - Publication Year :
- 2004
-
Abstract
- Mutations in GJB2 (connexin26) are associated with skin disorders and deafness. The Clouston syndrome (MIM129500) is associated with mutations in GJB6 (connexin30). Here, we describe a patient suffering from a Clouston-syndrome-like phenotype of thin hair, deafness, nail dystrophy, and mild erythrokeratoderma, caused by a novel spontaneous missense mutation in GJB2. The heterozygous mutation in codon 42, AAC>AAG, changes asparagine to lysine (N14K). Interestingly, this asparagine is near two of the residues mutated in Keratitis-like ichthyosis deafness (KID) syndrome (G12R and S17F), yet the phenotype associated with N14K strongly differs from the KID phenotype. Instead, there is a clear phenotypic overlap with syndromes associated with connexin26 or 30 mutations. Our finding suggest that careful audiological evaluation of patients suffering from Clouston-syndrome-like phenotypes is warranted and expand the spectrum of connexin26-associated disease.
Details
- Language :
- English
- ISSN :
- 0022-202X
- Volume :
- 123
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- The Journal of investigative dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 15245427
- Full Text :
- https://doi.org/10.1111/j.0022-202X.2004.23204.x