BACKGROUND: X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. Identification of female carriers of X-linked HED can be difficult because of varying degrees of clinical symptoms due to the X-chromosome inactivation. This is the first study about whole saliva flow and composition in males affected by HED and female carriers all confirmed by molecular genetic analysis. HYPOTHESIS AND AIM: As salivary glands derive from ectoderm, we hypothesized that whole saliva flow and composition are altered in males affected by HED and female carriers. DESIGN: Saliva flow and composition were examined in a group of affected males and in a group of female carriers, all confirmed by molecular genetic analysis, and compared with healthy male and female controls. RESULTS: Affected males and female carriers had reduced whole saliva flow and saliva with high concentrations of most inorganic salivary constituents as well as total protein. However, affected males and female carriers seemed to have reduced amylase activity and concentration relative to their total protein concentration. CONCLUSION: Saliva flow and composition may be used as part of a comprehensive clinical examination to identify potential female carriers of HED.
BACKGROUND:X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. Identification of female carriers of X-linked HED can be difficult because of varying degrees of clinical symptoms due to the X-chromosome inactivation. This is the first study about whole saliva flow and composition in males affected by HED and female carriers all confirmed by molecular genetic analysis. HYPOTHESIS AND AIM: As salivary glands derive from ectoderm, we hypothesized that whole saliva flow and composition are altered in males affected by HED and female carriers. DESIGN: Saliva flow and composition were examined in a group of affected males and in a group of female carriers, all confirmed by molecular genetic analysis, and compared with healthy male and female controls. RESULTS: Affected males and female carriers had reduced whole saliva flow and saliva with high concentrations of most inorganic salivary constituents as well as total protein. However, affected males and female carriers seemed to have reduced amylase activity and concentration relative to their total protein concentration. CONCLUSION: Saliva flow and composition may be used as part of a comprehensive clinical examination to identify potential female carriers of HED.
Authors: Jie Yang; Shih-Kai Wang; Murim Choi; Bryan M Reid; Yuanyuan Hu; Yuan-Ling Lee; Curtis R Herzog; Hera Kim-Berman; Moses Lee; Paul J Benke; K C Kent Lloyd; James P Simmer; Jan C-C Hu Journal: Mol Genet Genomic Med Date: 2014-09-15 Impact factor: 2.183