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Böckenhauer D, Bökenkamp A, Nuutinen M, et al. Novel OCRL mutations in patients with Dent-2 disease. J Pediatr Genet. 2012;1(1):15-23doi: 10.3233/PGE-2012-005.
Böckenhauer, D., Bökenkamp, A., Nuutinen, M., Unwin, R., Van't Hoff, W., Sirimanna, T., Vrljicak, K., & Ludwig, M. (2012). Novel OCRL mutations in patients with Dent-2 disease. Journal of pediatric genetics, 1(1), 15-23. https://doi.org/10.3233/PGE-2012-005
Böckenhauer, Detlef, et al. "Novel OCRL mutations in patients with Dent-2 disease." Journal of pediatric genetics vol. 1,1 (2012): 15-23. doi: https://doi.org/10.3233/PGE-2012-005
Böckenhauer D, Bökenkamp A, Nuutinen M, Unwin R, Van't Hoff W, Sirimanna T, Vrljicak K, Ludwig M. Novel OCRL mutations in patients with Dent-2 disease. J Pediatr Genet. 2012 Mar;1(1):15-23. doi: 10.3233/PGE-2012-005. PMID: 27625797; PMCID: PMC5020915.
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J Pediatr Genet. 2012 Mar;1(1):15-23. doi: 10.3233/PGE-2012-005.

Novel OCRL mutations in patients with Dent-2 disease.

Journal of pediatric genetics

Detlef Böckenhauer, Arend Bökenkamp, Matti Nuutinen, Robert Unwin, William Van't Hoff, Tony Sirimanna, Kristina Vrljicak, Michael Ludwig

Affiliations

  1. Department of Nephrology, Great Ormond Hospital for Children, London, UK.
  2. Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands.
  3. Department of Pediatrics and Adolescence, Oulu University Hospital, Oulu, Finland.
  4. UCL Centre for Nephrology, Royal Free Hospital and Campus, University College Medical School, London, UK.
  5. Department of Audiology, Great Ormond Hospital for Children, London, UK.
  6. Department of Nephrology, University Children' Hospital, Zagreb, Croatia.
  7. Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.

PMID: 27625797 PMCID: PMC5020915 DOI: 10.3233/PGE-2012-005

Abstract

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

Keywords: Dent-2 disease; OCRL gene; cataracts; mental retardation; proximal tubulopathy

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