{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T22:18:23Z","timestamp":1790979503455,"version":"4.1.0"},"reference-count":22,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2011,1,7]]},"published-print":{"date-parts":[[2011,6]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common type of ectodermal dysplasia, is caused by\n                      <jats:italic>EDA<\/jats:italic>\n                      gene mutations. Reduced sweating contributes substantially to XLHED associated morbidity and mortality. To characterise the genotype\u2013phenotype relationship, sweat gland function was assessed non-invasively in XLHED patients and healthy controls.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Subjects and methods<\/jats:title>\n                    <jats:p>In 36 genotyped XLHED patients and 29 control subjects aged 0\u201357\u2005years, pilocarpine-induced sweat volume, palmar sweat pore density, and palmar skin conductance before and after stimulation were determined.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 31 XLHED males, 14 had neither detectable sweat pores nor inducible sweating, 10 showed a few sweat pores but absent sweating, and 7 produced reduced sweat volumes (1\u201311\u2005\u03bcl) as compared with controls (38\u201393\u2005\u03bcl). Two of the low sweating XLHED subjects had normal sweat pore counts. In all 5 heterozygous females, some sweat was detected, but generally less than in female controls. Basal and stimulated skin conductance readings were reduced in 23 of 24 non-sweating, but only in 3 of 12 low-sweating XLHED subjects. There was no correlation between sweat production and number of missing teeth.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      In contrast to prior reports on non-genotyped hypohidrotic ectodermal dysplasia populations, this study confirmed a consistent, quantifiable defect of sweat gland function in male XLHED subjects as a disease biomarker. Among 26 different\n                      <jats:italic>EDA<\/jats:italic>\n                      genotypes, specific mutations were shown to be consistently associated with anhidrosis, implying that systematic mapping of\n                      <jats:italic>EDA<\/jats:italic>\n                      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.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg.2010.084012","type":"journal-article","created":{"date-parts":[[2011,2,26]],"date-time":"2011-02-26T20:45:17Z","timestamp":1298753117000},"page":"426-432","source":"Crossref","is-referenced-by-count":48,"title":["Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal 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