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Case Reports
. 2011 Dec;4(6):386-9.
doi: 10.1093/ndtplus/sfr094. Epub 2011 Aug 22.

A pseudo-dominant form of Gitelman's syndrome

Renaud de La Faille  1 , Marion Vallet  1 , Annabelle Venisse  2 , Valérie Nau  2 , Carole Collet-Gaudillat  3 , Pascal Houillier  1 , Xavier Jeunemaitre  4 , Rosa Vargas-Poussou  5
Affiliations
Case Reports

A pseudo-dominant form of Gitelman's syndrome

Renaud de La Faille et al. NDT Plus. 2011 Dec.

Abstract

Gitelman's syndrome is an autosomal recessive salt losing nephropathy caused by inactivated mutations of the SLC12A3 gene, encoding the NaCl cotransporter of the distal convoluted tubule. We report a French family with five affected members over two generations suggesting a dominant transmission. After SLC12A3 sequencing of seven individuals, four mutations were detected. Pseudo-dominant transmission was explained by the union of a compound heterozygous woman (two mutations on one allele and one mutation on the other) with a heterozygous healthy man. This study shows the importance of complete genetic analysis of families with unusual presentation.

Keywords: Gitelman syndrome; mutation in cis; mutation in trans; pseudo-dominant inheritance.

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Figures

Fig. 1.
Fig. 1.
Family tree illustrating the transmission of GS over two generations. Sequencing chromatograms and segregation of the four detected mutations in the SLC12A3 gene are shown. Affected subjects are represented by dark symbols. The index patient is II.2. Mutations c and d are on the same allele.
See this image and copyright information in PMC

References

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