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Dent-2 Disease: A Mild Variant of Lowe Syndrome

✍ Scribed by Arend Bökenkamp; Detlef Böckenhauer; Hae Il Cheong; Bernd Hoppe; Velibor Tasic; Robert Unwin; Michael Ludwig

Book ID
113745166
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
140 KB
Volume
155
Category
Article
ISSN
1097-6833

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Mutations of OCRL1 are associated with both the Lowe oculocerebrorenal syndrome, a multisystemic and Dent-2 disease, a renal tubulopathy. We have identified a mutation in 130 Lowe syndrome families and 6 affected by Dent-2 disease with 51 of these mutations being novel. No founding effect was eviden