Why the study?
Do mutations in the novel long CLC-5 isoform explain Dent's phenotype in patients without mutations in the short variant?
Do mutations in the novel long CLC-5 isoform explain Dent's phenotype in patients without mutations in the short variant?
The molecular defect in some patients with Dent's disease remains unexplained by the novel long CLC-5 isoform, suggesting involvement of unknown regulating elements or accessory proteins.
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Dent disease molecular defects remain unexplained in mutation-negative patients; leaves open unknown regulators or accessory proteins.
Despite the identification of further targets to explain Dent's disease, the molecular defect in our patients remains to be elucidated. Hence, their phenotype may be explained by mutations that affect so far unknown regulating elements of the CLCN5 gene or another gene(s), probably encoding CLC-5 accessory protein(s).
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Ludwig et al. (2003) studied this question.
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