| #300555 | ||||||||||
| DENT DISEASE 2 | ||||||||||
| Phenotype Gene Relationships | ||||||||||
| ||||||||||
| TEXT | ||||||||||
| A number sign (#) is used with this entry because Dent disease-2 is caused by mutation in the OCRL gene (300535) on chromosome Xq26. For a phenotypic description and a discussion of genetic heterogeneity of Dent disease, see 300009. Hoopes et al. (2005) reported affected members of 13 families with Dent disease in whom mutations in the CLCN5 gene (300008) were excluded, indicating genetic heterogeneity. In 5 of these 13 families, they identified mutations in the OCRL gene (see, e.g., 300535.0005 and {3005350.0006}). None of the patients had metabolic acidosis. Three of the 5 had mild mental retardation, whereas 2 had no developmental delay or behavioral disturbance. | ||||||||||
| REFERENCES | ||||||||||
| ||||||||||
| ||||||||||