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PubMed ID | Description |
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21415153 | In 51 patients with a clinical diagnosis of Gitelman's syndrome and a demonstrated heterozygous sequence mutation, nine deletions and two duplications (22%) were detected using MLPA targeting the SLC12A3 gene |
Inactivating mutations of the SLC12A3 gene are the most common cause of Gitelman's syndrome (GS), a disorder inherited as an autosomal recessive trait. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders (PMID:18667063). Most mutations are missense mutations substituting conserved amino acid residues within putative functional domains of the NCCT, whereas nonsense, frameshift and splice-site defects, and gene rearrangements are less frequent. It is noteworthy that in up to 40% of patients with a clinical diagnosis of Gitelman's syndrome only a single mutation is detected, instead of being compound heterozygous or homozygous (PMID:17061123).
No literature identified.