Dent Disease with mutations in OCRL1. Am J Hum Genet 2005;76:260-267.
Renal disease with OCRL1 mutations: Dent-2 or Lowe syndrome?
Dent disease is a very rare X-linked disorder of proximal tubule dysfunction due to mutations in the CLCN5 chloride/protein exchanger gene (Dent disease 1, accounting for 60% of cases) or in the OCRL1 gene (Dent disease 2, accounting for 15% of cases) (Devuyst & Thakker, 2010; Edvardsson et al., 2013; Lieske et al., 2014).
Genetic screening for either of the two implicated genes (CLCN5 and OCRL1) can be used to confirm the diagnosis (Edvardsson et al., 2013; Lieske et al., 2014).
Most cases are caused by mutations in the CLCN5 gene classified as type 1 (OMIM # 300009) whereas mutations in the OCRL1 gene are responsible for type 2 (OMIM # 300555) of Dent's disease .
Dent's disease of type 2 is thought to be a mild variant of oculocerebrorenal syndrome (Lowe syndrome) because both conditions are caused by mutation in the OCRL1 gene and therefore, the former is manifested sometimes with extrarenal features, including mild ocular involvement, mild intellectual disability, muscle hypotonia, umbilical hernia or short stature [2,3].
Mutation is found in the chloride channel 5 (CLC-5) gene on Xp11,22 chromosome in 60% of the patients and in the OCRL1
gene in 15% of the patients (8,9,10).
Lowe syndrome Mutations in the gene that codes for an includes early enzyme called OCRL1
lead to shortened cataracts, mental primary cilia.