Journal article
Linkage of Infantile Bartter Syndrome with Sensorineural Deafness to Chromosome 1p
American journal of human genetics, Vol.62(2), pp.355-361
1998
DOI: 10.1086/301708
PMCID: PMC1376884
PMID: 9463315
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.
Details
- Title: Subtitle
- Linkage of Infantile Bartter Syndrome with Sensorineural Deafness to Chromosome 1p
- Creators
- Theresa M.H Brennan - Department of Medicine, University of Iowa, Iowa CityDaniel Landau - Department of Pediatrics, Ben Gurion University of the Negev, Beer-Sheva, IsraelHana Shalev - Department of Pediatrics, Ben Gurion University of the Negev, Beer-Sheva, IsraelFred Lamb - Department of Pediatrics, University of Iowa, Iowa CityBrian C Schutte - Department of Pediatrics, University of Iowa, Iowa CityRoxanne Y Walder - Department of Medicine, University of Iowa, Iowa CityAllyn L Mark - Department of Medicine, University of Iowa, Iowa CityRivka Carmi - Genetics Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva, IsraelVal C Sheffield - Department of Pediatrics, University of Iowa, Iowa City
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.62(2), pp.355-361
- Publisher
- Elsevier Inc
- DOI
- 10.1086/301708
- PMID
- 9463315
- PMCID
- PMC1376884
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Language
- English
- Date published
- 1998
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Cardiovascular Medicine; Medical Genetics and Genomics; Internal Medicine; Ophthalmology and Visual Sciences
- Record Identifier
- 9984065492002771
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