Novel OCRL mutations in patients with Dent-2 disease.
作者： Detlef Böckenhauer , Arend Bökenkamp , Matti Nuutinen , Robert Unwin , William van't Hoff
DOI: 10.3233/PGE-2012-005
关键词:
摘要: Dent disease is an X-linked tubulopathy frequently caused by mutations in the CLCN5 gene encoding voltage-gated chloride channel and chloride/proton antiporter, ClC-5. About 15% of patients with a Dent' phenotype have OCRL gene, which also causes Lowe oculocerebrorenal syndrome. To distinguish these from more severe phenotype, they are diagnosed as having Dent-2 disease. We studied 14 CLCN5-negative 12 families resembling for defects OCRL. In six kindreds three novel (c.149+1G>A, c.1126A>T, c.1547T>C) repeatedly observed (c.166_167delTT, c.901C>T, c.1426C>T) were discovered. With exception lower prevalence nephrocalcinosis, renal identical harboring mutation. Affected children may some extra-renal symptoms syndrome, such peripheral cataracts, mental impairment, stunted growth or elevation creatine kinase/lactate dehydrogenase, blurring distinction between those two clinical entities.
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