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

Theresa M.H. Brennan, Daniel Landau, Hana Shalev, Fred Lamb, Brian C. Schutte, Roxanne Y. Walder, Allyn L. Mark, Rivka Carmi, Val C. Sheffield

Research output: Contribution to journalArticlepeer-review

59 Scopus citations

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.

Original languageEnglish
Pages (from-to)355-361
Number of pages7
JournalAmerican Journal of Human Genetics
Volume62
Issue number2
DOIs
StatePublished - 1 Jan 1998

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