{"id":105,"date":"2011-02-26T23:05:23","date_gmt":"2011-02-26T23:05:23","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=105"},"modified":"2011-02-26T23:05:23","modified_gmt":"2011-02-26T23:05:23","slug":"sweating-ability-and-genotype-in-individuals-with-x-linked-hypohidrotic-ectodermal-dysplasia","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/02\/26\/sweating-ability-and-genotype-in-individuals-with-x-linked-hypohidrotic-ectodermal-dysplasia\/","title":{"rendered":"Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia"},"content":{"rendered":"<p>Individuals with X-linked hypohidrotic ectodermal dysplasia (XLHED) lack a normal sweat response, placing them at life-long risk for severe overheating. This study reports on the use of non-invasive technologies for assessing sweat gland function, and correlated the results with the nature and location of <em>EDA<\/em> gene defects underlying XLHED. In contrast to previous reports on mixed patient populations, the data confirmed a consistent, quantifiable defect of sweat gland function in male XLHED subjects as a disease biomarker. Specific mutations present in 60% of the male patients were associated with a total absence of sweating, and all remaining subjects had reduced sweat rates. These findings imply that systematic mapping of <em>EDA<\/em> mutations together with the analysis of objective clinical data may help to distinguish functionally crucial mutations from those allowing residual activity of the gene product. (By Dr. Holm Schneider, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/02\/26\/jmg.2010.084012.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/02\/26\/jmg.2010.084012.abstract?papetoc<\/a>= )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Individuals with X-linked hypohidrotic ectodermal dysplasia (XLHED) lack a normal sweat response, placing them at life-long risk for severe overheating. This study reports on the use of non-invasive technologies for assessing sweat gland function, and correlated the results with the nature and location of EDA gene defects underlying XLHED. In contrast to previous reports on [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/02\/26\/sweating-ability-and-genotype-in-individuals-with-x-linked-hypohidrotic-ectodermal-dysplasia\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-105","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/105","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=105"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/105\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=105"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=105"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=105"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}