Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p

Am J Hum Genet. 1998 Feb;62(2):355-61. doi: 10.1086/301708.

Abstract

Bartter syndrome (BS) is a family of disorders manifested by hypokalemic hypochloremic metabolic alkalosis with normotensive hyperreninemic hyperaldosteronism. We evaluated a unique, inbred Bedouin kindred in which sensorineural deafness (SND) cosegregates with an infantile variant of the BS phenotype. Using a DNA-pooling strategy, we screened the human genome and successfully demonstrated linkage of this unique syndrome to chromosome 1p31. The genes for two kidney-specific chloride channels and a sodium/hydrogen antiporter, located near this region, were excluded as candidate genes. Although the search for the disease-causing gene in this family continues, this linkage further demonstrates the genetic heterogeneity of BS. In addition, the cosegregation of these phenotypes allows us to postulate that a single genetic alteration may be responsible for the SND and the BS phenotype. The identification and characterization of this gene would lead to a better understanding of the normal physiology of the kidney and the inner ear.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Bartter Syndrome / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • DNA Primers
  • Deafness / genetics*
  • Family
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Genotype
  • Humans
  • Male
  • Pedigree
  • Repetitive Sequences, Nucleic Acid

Substances

  • DNA Primers
  • Genetic Markers