| Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. | |
MedLine Citation:
|
PMID: 8640224 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Inherited hypokalaemic alkalosis with low blood pressure can be divided into two groups-Gitelman's syndrome, featuring hypocalciuria, hypomagnesaemia and milder clinical manifestations, and Bartter's syndrome, featuring hypercalciuria and early presentation with severe volume depletion. Mutations in the renal Na-Cl cotransporter have been shown to cause Gitelman's syndrome. We demonstrate linkage of Bartter's syndrome to the renal Na-K-2Cl cotransporter gene NKCC2, and identify frameshift or non-conservative missense mutations for this gene that co-segregate with the disease. These findings demonstrate the molecular basis of Bartter's syndrome, provide the basis for molecular classification of patients with inherited hypokalaemic alkalosis, and suggest potential phenotypes in heterozygous carriers of NKCC2 mutations. |
Authors:
|
D B Simon; F E Karet; J M Hamdan; A DiPietro; S A Sanjad; R P Lifton |
Related Documents
:
|
8619554 - A novel point mutation in the mcleod syndrome gene in neuroacanthocytosis. 20507344 - A novel mutation in med12 causes fg syndrome (opitz-kaveggia syndrome). 16442164 - Cardiolipin metabolism and barth syndrome. 16225824 - Rett syndrome: model of neurodevelopmental disorders. 10338354 - Cervical spinal cord injury in sapho syndrome. 7985204 - Scorpion sting-induced pulmonary oedema: evidence of increased alveolocapillary membran... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
|
Title: Nature genetics Volume: 13 ISSN: 1061-4036 ISO Abbreviation: Nat. Genet. Publication Date: 1996 Jun |
Date Detail:
|
Created Date: 1996-07-16 Completed Date: 1996-07-16 Revised Date: 2006-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 183-8 Citation Subset: IM |
Affiliation:
|
Howard Hughes Medical Institute, Department of Medicine, Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, Connecticut 06510, USA. |
| Data Bank Information | |
Bank Name/Acc. No.:
|
GENBANK/U58130 |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Amino Acid Sequence Bartter Syndrome / etiology, genetics* Base Sequence Carrier Proteins / chemistry, genetics* Cloning, Molecular Consanguinity DNA, Complementary Female Genetic Markers Homozygote Humans Male Molecular Sequence Data Mutation* Pedigree Sequence Analysis, DNA Sodium-Potassium-Chloride Symporters |
| Chemical | |
Reg. No./Substance:
|
0/Carrier Proteins; 0/DNA, Complementary; 0/Genetic Markers; 0/Sodium-Potassium-Chloride Symporters |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family co...
Next Document: Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type ...