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Background  Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to  CLCN5  gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before.    Case presentation  Here we report a 3-year and 11-month old Chinese girl with short stature who had a karyotype of 46,X,i(X)(q10) and a de novo pathogenic variant in the  CLCN5  gene on the short arm of X chromosome. Laboratory examinations showed that the patient had LMWP, hypercalciuria, hypophosphatemia, delayed bone age, and genital dysplasia.    Conclusion  The combination of i(X)(q10) and  CLCN5  mutation causes the deletion of the wild-type  CLCN5  allele that results in Dent-1 and TS. To the best of our knowledge, this is the first case that a female  CLCN5  mutation hemizygote is diagnosed with Dent-1 and Turner syndrome due to isochromosome X. Also, our case has indicated that the prevalence of the situation may be largely underestimated because of the mild signs of females with Dent-1.

Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq)