Medizinische Universität Graz - Research portal
Selected Publication:
Reissinger, A; Ludwig, M; Utsch, B; Prömse, A; Baulmann, J; Weisser, B; Vetter, H; Kramer, HJ; Bokemeyer, D.
Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.
Kidney Blood Press Res. 2002; 25(6):354-362
Doi: 10.1159/000068695
(- Case Report)
Web of Science
PubMed
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FullText_MUG
- Co-authors Med Uni Graz
- Baulmann Johannes
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- Abstract:
- Gitelman's syndrome (GS) is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria and these phenotypic features have been shown to be attributable to mutations in the gene encoding the thiazide-sensitive Na/Cl cotransporter (NCCT). Until now, 55 different mutations have been reported and most of the families affected with GS exhibit autosomal recessive inheritance. All 26 exons of the human NCCT gene were investigated in 2 German NCCT-deficient patients and their families. Mutation detection was performed by either direct automated sequencing of polymerase chain reaction (PCR)-amplified DNA products or by sequence analysis of cloned PCR products. In a 47-year-old German GS female a novel non-conservative missense mutation (S314F) and a complex deletion/insertion in the NCCT gene were found to be associated with the disorder. A further novel non-conservative substitution (S402F) together with a frequently observed R209W exchange were found in a 19-year-old German GS female. The observation of a compound heterozygote state in both females affected and the absence of a GS phenotype in their relatives carrying a single mutant allele is consistent with an autosomal recessive pattern of inheritance. Copyright 2002 S. Karger AG, Basel
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Alkalosis - genetics
- Amino Acid Sequence -
- Calcium - urine
- Carrier Proteins - genetics
- Female -
- Gene Deletion -
- Heterozygote -
- Humans -
- Hypokalemia - genetics
- Magnesium - blood
- Middle Aged -
- Molecular Sequence Data -
- Mutation, Missense -
- Pedigree -
- Phenotype -
- Receptors, Drug -
- Sodium Chloride Symporters -
- Solute Carrier Family 12, Member 3 -
- Symporters -
- Find related publications in this database (Keywords)
- Gitelman's syndrome
- thiazide-sensitive Na/Cl cotransporter
- mutation
- polymorphism