Renal Tubular Acidosis and Deafness (ATP6V1B1)
Renal tubular acidosis and deafness is an autosomal recessive disorder caused by pathogenic variants in the gene ATP6V1B1. It is particularly prevalent in Sephardic Jewish individuals from Syria due to the presence of a founder mutation, but it may be identified in individuals of any ethnicity. The disease is characterized by the inability of the kidneys to filter the blood properly, leading to acidification of the blood and the development of kidney stones and growth retardation. Acidification of the fluid in the inner ear results in hearing loss early in life. Treatment can help some aspects of the disease but will not prevent hearing loss. No reduction of lifespan has been reported. It is not possible to predict the severity of the disease based on the genotype.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.