Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII

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.