{"id":105,"date":"2011-02-26T23:05:23","date_gmt":"2011-02-26T23:05:23","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=105"},"modified":"2026-02-22T00:39:23","modified_gmt":"2026-02-22T00:39:23","slug":"sweating-ability-and-genotype-in-individuals-with-x-linked-hypohidrotic-ectodermal-dysplasia","status":"publish","type":"post","link":"https:\/\/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 (Contributed by Dr. Holm Schneider)"},"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. (<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:\/\/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":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-105","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia (Contributed by Dr. Holm Schneider) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/02\/26\/sweating-ability-and-genotype-in-individuals-with-x-linked-hypohidrotic-ectodermal-dysplasia\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia (Contributed by Dr. Holm Schneider) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"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 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/02\/26\/sweating-ability-and-genotype-in-individuals-with-x-linked-hypohidrotic-ectodermal-dysplasia\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-02-26T23:05:23+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T00:39:23+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/02\\\/26\\\/sweating-ability-and-genotype-in-individuals-with-x-linked-hypohidrotic-ectodermal-dysplasia\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/02\\\/26\\\/sweating-ability-and-genotype-in-individuals-with-x-linked-hypohidrotic-ectodermal-dysplasia\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia (Contributed by Dr. Holm Schneider)\",\"datePublished\":\"2011-02-26T23:05:23+00:00\",\"dateModified\":\"2026-02-22T00:39:23+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/02\\\/26\\\/sweating-ability-and-genotype-in-individuals-with-x-linked-hypohidrotic-ectodermal-dysplasia\\\/\"},\"wordCount\":159,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/02\\\/26\\\/sweating-ability-and-genotype-in-individuals-with-x-linked-hypohidrotic-ectodermal-dysplasia\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/02\\\/26\\\/sweating-ability-and-genotype-in-individuals-with-x-linked-hypohidrotic-ectodermal-dysplasia\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/02\\\/26\\\/sweating-ability-and-genotype-in-individuals-with-x-linked-hypohidrotic-ectodermal-dysplasia\\\/\",\"name\":\"Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia (Contributed by Dr. Holm Schneider) - 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