Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness.
A four-year-old Caucasian male with well-documented renal tubular acidosis, first noted in early infancy, was found to have profound hearing loss causing delayed speech development. The parents were first cousins, and three male half-sibs, each by a different father, were not affected. The findings suggest that the syndrome of renal tubular acidosis with deafness is a distinct nosologic entity that is determined by an autosomal recessive gene.
D000141:Acidosis, Renal Tubular / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome