Journal article
Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome
Npj genomic medicine, Vol.6(1), pp.68-68
08/13/2021
DOI: 10.1038/s41525-021-00230-8
PMCID: PMC8363728
PMID: 34389731
Abstract
Recurrent mutations in the
SLC12A3
gene responsible for autosomal recessive Gitelman syndrome (GS) are frequently reported, but the exact prevalence is unknown. The rapid detection of recurrent
SLC12A3
mutations may help in the early diagnosis of GS. This study was aimed to investigate the prevalence of recurrent
SLC12A3
mutations in a Taiwan cohort of GS families and develop a simple and rapid method to detect recurrent
SLC12A3
mutations. One hundred and thirty independent Taiwan families with genetically confirmed GS were consecutively enrolled to define recurrent
SLC12A3
mutations and determine their prevalence. Using TaqMan probe-based real-time polymerase chain reaction, we designed a mutation detection plate with all recurrent mutations. We validated this mutation detection plate and tested its feasibility in newly diagnosed GS patients. A total of 57 mutations in the
SLC12A3
gene were identified and 22 including 2 deep intronic mutations were recurrent mutations consisting of 87.1% (242/278, 18 triple) of all allelic mutations. The recurrent mutation-based TaqMan assays were fully validated with excellent sensitivity and specificity in genetically diagnosed GS patients and healthy subjects. In clinical validation, recurrent mutations were recognized in 92.0% of allelic mutations from 12 GS patients within 4 h and all were confirmed by direct sequencing. Recurrent
SLC12A3
mutations are very common in Taiwan GS patients and can be rapidly identified by this recurrent mutation-based
SLC12A3
mutation plate.
Details
- Title: Subtitle
- Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome
- Creators
- Ming-Tso Yan - Fu Jen Catholic UniversitySung-Sen Yang - Tri-Service General HospitalMin-Hua Tseng - Chang Gung Memorial HospitalChih-Jen Cheng - Tri-Service General HospitalJeng-Daw Tsai - Mackay Memorial HospitalChih-Chien Sung - Tri-Service General HospitalYu-Juei Hsu - Tri-Service General HospitalShih-Hua Lin - Tri-Service General Hospital
- Resource Type
- Journal article
- Publication Details
- Npj genomic medicine, Vol.6(1), pp.68-68
- DOI
- 10.1038/s41525-021-00230-8
- PMID
- 34389731
- PMCID
- PMC8363728
- NLM abbreviation
- NPJ Genom Med
- ISSN
- 2056-7944
- eISSN
- 2056-7944
- Publisher
- Nature Publishing Group UK
- Grant note
- ; MOST 106-2314-B-016-035-MY3 / ; TSGH-C-107-096 & TSGH-C-109-113 / ;
- Language
- English
- Date published
- 08/13/2021
- Academic Unit
- Nephrology; Internal Medicine
- Record Identifier
- 9984383305902771
Metrics
18 Record Views