1. Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII
- Author
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Feldshtein, Maya, Elkrinawi, Suliman, Yerushalmi, Baruch, Marcus, Barak, Vullo, Daniela, Romi, Hila, Ofir, Rivka, Landau, Daniel, Sivan, Sara, Supuran, Claudiu T., and Birk, Ohad S.
- Subjects
Bedouins -- Genetic aspects ,Bedouins -- Physiological aspects ,Dehydration (Physiology) -- Analysis ,Gene mutations -- Analysis ,Human genome -- Research ,Linkage (Genetics) -- Analysis ,Perspiration -- Health aspects ,Perspiration -- Genetic aspects ,Perspiration -- Demographic aspects ,Biological sciences - Abstract
A consanguineous Israeli Bedouin kindred with autosomal-recessive hyperchlohidrosis characterized by the symptoms of visible salt precipitates after sweating, a preponderance to hyponatremic dehydration, and poor feeding and slow weight gain at infancy is reported. The findings from genome-wide linkage analysis demonstrated that the phenotype is attributed to a homozygous mutation in CA12, encoding carbonic anhydrase XII.
- Published
- 2010