Document Detail

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    
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.
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    
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.:
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Amino Acid Sequence
Bartter Syndrome / etiology,  genetics*
Base Sequence
Carrier Proteins / chemistry,  genetics*
Cloning, Molecular
DNA, Complementary
Genetic Markers
Molecular Sequence Data
Sequence Analysis, DNA
Sodium-Potassium-Chloride Symporters
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 ...