Hypothesis: SLC12A3 polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance

Mammen, Cherry, Rupps, Rosemarie, Trnka, Peter and Boerkoel, Cornelius F. (2012) Hypothesis: SLC12A3 polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance. European Journal of Medical Genetics, 55 2: 96-98. doi:10.1016/j.ejmg.2011.12.006


Author Mammen, Cherry
Rupps, Rosemarie
Trnka, Peter
Boerkoel, Cornelius F.
Title Hypothesis: SLC12A3 polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance
Formatted title
Hypothesis: SLC12A3 polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance
Journal name European Journal of Medical Genetics   Check publisher's open access policy
ISSN 1769-7212
1878-0849
Publication date 2012-02-01
Year available 2012
Sub-type Article (original research)
DOI 10.1016/j.ejmg.2011.12.006
Open Access Status Not Open Access
Volume 55
Issue 2
Start page 96
End page 98
Total pages 3
Place of publication Issy les Moulineaux, France
Publisher Elsevier Masson
Language eng
Subject 1311 Genetics
2716 Genetics (clinical)
Formatted abstract
We report a 5-year-old boy with thiazide-resistant Bartter syndrome. This is highly unusual since thiazide hypersensitivity is a common diagnostic finding in Bartter syndrome patients. Subsequent molecular testing identified compound heterozygosity for two novel mutations in KCNJ1, (c.556A > G and c.683G > A) which is associated with Bartter syndrome, and a paternally inherited polymorphism in SLC12A3 (c.791G > C). Mutations in SLC12A3 cause the thiazide-resistant tubulopathy Gitelman syndrome. Based on published studies of this polymorphism in SLC12A3 and the features of the proband's father, we postulate that this polymorphism modifies the phenotype of Bartter syndrome in the proband to thiazide resistance.
Keyword Expressivity
Gitelman syndrome
Polymorphism
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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