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Abstract: SA-PO583

Rapid Detection of Heterozygous Carrier of AGT for Autosomal Recessive Renal Tubular Dysgenesis in Taiwan

Session Information

  • Genetic Diseases: Diagnosis
    November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
    Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

  • 1102 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Tseng, Min-hua, Chang Gung Memorial Hospital Linkou, Taoyuan, Taiwan
  • Lin, Shih-Hua P., Tri-Service General Hospital, Taipei, Taiwan
Background

Recurrent mutation of homozygous E3_E4 del:2870bp deletion+9bp insertion in the AGT gene responsible for autosomal recessive renal tubular dysgenesis (ARRTD) is frequently reported in Taiwan, but the exact prevalence of heterozygosity is still unknown. The rapid detection of this mutation may help in the prevention of recurrent ARRTD.

Methods

This study was aimed to investigate the prevalence of heterozygosity of E3_E4 del:2870bp deletion+9bp insertion of AGT in Taiwan and develop a simple and rapid method to detect this mutation. Three thousand health, ten heterozygous parents, and five homozygous Taiwanese were enrolled to define this mutation and determine their prevalence by using TaqMan probe-based real-time polymerase chain reaction (RT-PCR). We designed and validated the mutation detection plate, and tested its feasibility in newly diagnosed ARRTD patients.

Results

The recurrent mutation-based TaqMan assays were fully validated with excellent sensitivity and specificity in genetic diagnosed patients and healthy subjects. The prevalence of heterozygosity of E3_E4 del:2870bp deletion+9bp insertion of AGT is 1.27% in Taiwan. The probability that this haplotype occurred independently in all index cases was of 1.52 x105, suggesting a founder effect.

Conclusion

The prevalence of heterozygosity of E3_E4 del:2870bp deletion+9bp insertion of AGT in Taiwan is high and can be rapidly identified by TagMan probe-based RT-PCR.

Funding

  • Government Support – Non-U.S.