Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with <i>OCRL</i> Mutations.

Truncating mutations of the <i>OCRL</i> gene were more common in patients with Lowe syndrome than in Dent-2 disease, while mutation is more likely located at exon 2-12 in Dent-2 disease than that in Lowe syndrome. The type and location of mutation are important indicators for the phenotypes in patients with <i>OCRL</i> mutation. This is a large cohort study analyzing the genotype-phenotype correlation in patients with Lowe syndrome and Dent-2 disease in China. Our data may improve the interpretation of new <i>OCRL</i> variants and genetic counseling. Furthermore, a large international study would be necessary to illustrate the genotype-phenotype correlation in patients with <i>OCRL</i> mutations.