Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia

Schneider H, Hammersen J, Preisler-Adams S, Huttner K, Rascher W, Bohring A (2011)

Publication Type: Journal article

Publication year: 2011

Journal

Journal of Medical Genetics BMJ Publishing Group

Book Volume: 48

Pages Range: 426-432

Journal Issue: 6

DOI: 10.1136/jmg.2010.084012

Abstract

Background: X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common type of ectodermal dysplasia, is caused by EDA gene mutations. Reduced sweating contributes substantially to XLHED associated morbidity and mortality. To characterise the genotypeephenotype relationship, sweat gland function was assessed non-invasively in XLHED patients and healthy controls. Subjects and methods: In 36 genotyped XLHED patients and 29 control subjects aged 0e57 years, pilocarpine-induced sweat volume, palmar sweat pore density, and palmar skin conductance before and after stimulation were determined. Results: 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 (1e11 ml) as compared with controls (38e93 ml). 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. Conclusions: In contrast to prior reports on nongenotyped 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 EDA genotypes, specific mutations were shown to be consistently associated with anhidrosis, implying that systematic mapping of EDA 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.

Authors with CRIS profile

Holm Schneider Professur für Kinderheilkunde/Experimentelle Perinatalmedizin Wolfgang Rascher Department of Paediatrics and Adolescent Medicine

Involved external institutions

Edimer Pharmaceuticals US United States (USA) (US) Westfälische Wilhelms-Universität (WWU) Münster DE Germany (DE)

How to cite

APA:

Schneider, H., Hammersen, J., Preisler-Adams, S., Huttner, K., Rascher, W., & Bohring, A. (2011). Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics, 48(6), 426-432. https://doi.org/10.1136/jmg.2010.084012

MLA:

Schneider, Holm, et al. "Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia." Journal of Medical Genetics 48.6 (2011): 426-432.

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