Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.
Tomohiko InoueChina NaganoMasafumi MatsuoTomohiko YamamuraNana SakakibaraTomoko HorinouchiYugo ShibagakiDaisuke IchikawaYuya AotoShinya IshikoShingo IshimoriRini RossantiKazumoto IijimaKandai NozuPublished in: Clinical and experimental nephrology (2020)
We found that five CLCN5 variants disrupted the original splice site, resulting in aberrant splicing. It is sometimes difficult to obtain mRNA from patient samples because of the fragility of mRNA or its low expression level in peripheral leukocytes. Our in vitro system can be used as an alternative to in vivo assays to determine the pathogenicity of suspected splicing variants.