摘要
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 clear phenotypic overlapwith syndromes associatedwith connexin26 or 30 mutations.Our findings suggest that careful audiological evaluation of patients suffering from Clouston-syndrome-like phenotypes iswarranted and expand the spectrum of connexin26-associated disease.
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 clear phenotypic overlapwith syndromes associatedwith connexin26 or 30 mutations.Our findings suggest that careful audiological evaluation of patients suffering from Clouston-syndrome-like phenotypes iswarranted and expand the spectrum of connexin26-associated disease.
