Linkage of Infantile Bartter Syndrome with Sensorineural Deafness to Chromosome 1p

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 phenoty...

Full description

Saved in:
Bibliographic Details
Published in:American journal of human genetics 1998-02, Vol.62 (2), p.355-361
Main Authors: Brennan, Theresa M.H., Landau, Daniel, Shalev, Hana, Lamb, Fred, Schutte, Brian C., Walder, Roxanne Y., Mark, Allyn L., Carmi, Rivka, Sheffield, Val C.
Format: Article
Language:English
Subjects:
Bartter syndrome
Bartter Syndrome - genetics
Biological and medical sciences
Chromosome 1
Chromosome Mapping
Chromosomes, Human, Pair 1
Deafness
Deafness - genetics
DNA Primers
Family
Female
Genetic Linkage
Genetic Markers
Genotype
Glomerulonephritis
Humans
Linkage
Male
Medical sciences
Nephrology. Urinary tract diseases
Nephropathies. Renovascular diseases. Renal failure
Pedigree
Repetitive Sequences, Nucleic Acid
Sensorineural deafness
Tropical medicine
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0002-9297
1537-6605
DOI:10.1086/301708