Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: <i>OCRL</i> Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?

Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: <i>OCRL</i> Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?

Dent disease is a rare X-linked renal tubulopathy due to <i>CLCN5</i> and <i>OCRL</i> (DD2) mutations. <i>OCRL</i> mutations also cause Lowe syndrome (LS) involving the eyes, brain and kidney. DD2 is frequently described as a mild form of LS because some patients...

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Bibliographic Details
Main Authors: Lisa Gianesello, Jennifer Arroyo, Dorella Del Prete, Giovanna Priante, Monica Ceol, Peter C. Harris, John C. Lieske, Franca Anglani
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:Genes
Subjects:
Dent disease 2
<i>OCRL</i> mutations
OCRL domains
genotype–phenotype correlations
Lowe syndrome
Online Access:https://www.mdpi.com/2073-4425/12/10/1597

Internet

https://www.mdpi.com/2073-4425/12/10/1597

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