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    • Keywords

       

      Gitelman syndrome; salt-wasting tubulopathy; SLC12A3 gene; hypokalaemia; tubular disorders; novel mutation.

    • Abstract

       

      Gitelman syndrome is an autosomal recessive salt-wasting tubulopathy caused by mutations in the SLC12A3 gene. A female and a male sibling from two unrelated Greek-Cypriot families presenting with a severe salt-wasting tubulopathy dueto compound heterozygous mutations of a novel duplication and a previously reported missense mutation in the SLC12A gene are described. Sanger sequencing was used to identify possible mutations in the SLC12A3 gene. For the detection of duplications/conversions and deletions in the same gene, Multiplex ligation probe amplification (MLPA) analysis was performed. Direct sequencing and MLPA analysis of the SLC12A3 gene identified two compound heterozygous mutations in both unrelated probands. Both probands were identified to carry in compound heterozygosity the known p.Met581Lys and a novelheterozygous duplication of exons 9-14 (E9_E14dup). The diagnosis of Gitelman syndrome was made through clinical assessment, biochemical screening and genetic analysis. The identification of the novel SLC12A3 duplication seems to be characteristic of Greek-Cypriot patients and suggests a possible ancestral mutational event that has spread in Cyprus due to a possible founder effect. Testing for Gitelman syndrome probable variants can be performed before proceeding to a full gene sequencing dropping the diagnostic cost. In addition, this report adds to the mutational spectrum observed.

    • Author Affiliations

       

      PAVLOS FANIS1 2 ELISAVET EFSTATHIOU3 VASSOS NEOCLEOUS1 2 LEONIDAS A. PHYLACTOU1 2 ADAMOS HADJIPANAYIS3 4

      1. Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus
      2. Cyprus School of Molecular Medicine, 1683 Nicosia, Cyprus
      3. Department of Pediatrics, Larnaca General Hospital, 6021 Larnaca, Cyprus
      4. The School of Medicine, European University Cyprus, 1516 Egkomi, Cyprus
    • Dates

       
  • Journal of Genetics | News

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