Hotspot-based SLC12A3 mutation detection in Taiwanese families with newly-diagnosed Gitelman’s syndrome

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Hotspot-based SLC12A3 mutation detection in Taiwanese families with newly-diagnosed Gitelman’s syndrome

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Co-author 1

Ming-Hua Tseng doc31089@gmail.com Chang Gung Memorial Hospital and Chang Gung University Department of Pediatrics Taoyuan Taiwan -

Co-author 2

Chih-Chien Sung sungchihchien@gmail.com National Defense Medical University, Tri-Service General Hospital Department of Medicine Taipei Taiwan -

Co-author 3

Ming-Tso Yan qqhaibear@yahoo.com.tw Cathay General Hospital, Fu-Jen Catholic University Department of Medicine Taipei Taiwan -

Co-author 4

Shih-Hua Lin l521116@gmail.com National Defense Medical University, Tri-Service General Hospital Department of Medicine Taipei Taiwan *

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Introduction

Given the higher prevalence of recurrent SLC12A3 gene mutations in Taiwanese patients with Gitelman’s syndrome (GS), we have successfully developed a simple and novel hotspot-based SLC12A3 mutation plate to detect them rapidly. We aimed to validate the diagnostic value of this hotspot-based SLC12A3 mutation detection in GS.

Methods

Patients with newly-diagnosed GS from independent Taiwanese families were included for genetic diagnosis. They had chronic hypokalemia with renal potassium wasting and metabolic alkalosis, persistent renal salt wasting, predominant hypomagnesemia and hypocalciuria, with the exclusion of non-renal causes of hypokalemia. The 24-hotspot-based TaqMan assays including two deep introns and one large deletion mutation were performed, followed by SLC12A3 sequencing.

Results

Hotspot-based SLC12A3 mutation plate for testing 30 different family representative patients rapidly identified 19 biallelic mutations including 3 triple mutations and 8 uni-allelic mutations, approximately within 4 hours. Further direct SLC12A3 sequencing identified 6 novel missense, and 2 small deletion/insertion mutations, confirming another 8 biallelic mutations.

Conclusion

In this study, a time-saving hotspot-based SLC12A3 mutation plate for the first detection of recurrent mutations with direct SLC12A3 sequencing may provide an almost 90% complete genetic diagnosis of GS.

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