Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I

Endocrine
Yue HanLeping Shao

Abstract

Bartter syndrome type I (BS1) has been rarely reported in large groups. On the other hand, the phenomenon of exon skipping, in which exonic mutations result in abnormal splicing, has been reported to be associated with various diseases. Specifically, mutations that result in the disruption of exonic splicing enhancers (ESEs) and/or the creation of exonic splicing silencers (ESSs) can promote exon skipping. However, the aberrant exon skipping caused by an exonic variant in such splicing regulatory elements (SREs) sequences has never been reported in the causal gene of SLC12A1 in BS1. We analyze the variants in nine Chinese families with BS1, including eight with antenatal BS (aBS) and one presenting as classical BS (cBS), by next-generation sequencing. Then we used bioinformatics programs to analyze all these variants found in this study and identify candidate mutations that may induce exon skipping. Furthermore, the effects of identified variants were classified according to the 2015 American College of Medical Genetics and Genomics (ACMG) standards and guidelines. Fifteen different variants of SLC12A1 gene were identified, including 11 novel ones. Two of the nine probands were homozygotes, the rest seven ones were compound het...Continue Reading

References

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Nov 18, 2017·Clinical Journal of the American Society of Nephrology : CJASN·Anne LegrandRosa Vargas-Poussou
Dec 20, 2017·Oncotarget·Yue HanLeping Shao

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Citations

Jun 4, 2020·World Journal of Pediatrics : WJP·Flavia Cristina Carvalho MradAna Cristina Simões-E-Silva
Dec 1, 2020·Frontiers in Genetics·Sai WangLeping Shao
Oct 16, 2020·Clinica Chimica Acta; International Journal of Clinical Chemistry·Jianxin ZuoLeping Shao

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