World Journal of Pediatrics

, 7:280

OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts

  • Vladimir J. Lozanovski
  • N. Ristoska-Bojkovska
  • P. Korneti
  • Z. Gucev
  • V. Tasic
Case report

DOI: 10.1007/s12519-011-0312-6

Cite this article as:
Lozanovski, V.J., Ristoska-Bojkovska, N., Korneti, P. et al. World J Pediatr (2011) 7: 280. doi:10.1007/s12519-011-0312-6

Abstract

Background

Oculocerebrorenal (Lowe) syndrome is an X-linked multisystem disease characterized by renal proximal tubulopathy, mental retardation, and congenital cataracts. We present a 19-year-old boy who was found to have low molecular weight proteinuria, hypercalciuria, mild generalized hyperaminoaciduria and intermittent microscopic hematuria at the age of 3.

Methods

Standard clinical and biochemical examinations and mutational analysis of the CLNC5 and OCRL1 gene were performed for the patient.

Results

The patient fulfilled diagnostic criteria for Dent disease, but lacked mutation in CLCN5. Sequencing of candidate genes revealed a mutation in his OCRL1 gene, which encodes for enzyme PIP2 5-phosphatase. The enzyme was not detected by western blot analysis, and decreased activity of the enzyme PIP2 5-phosphatase was observed in cultured skin fibroblasts. The boy had only mild mental retardation, mildly elevated muscle enzymes, but no neurological deficit or congenital cataracts, which are typical for Lowe syndrome.

Conclusions

Children with Dent phenotype who lack CLCN5 mutation should be tested for OCRL1 mutation. OCRL1 mutations may present with mild clinical features and are not necessarily associated with congenital cataracts.

Key words

cataracts Dent disease Lowe syndrome OCRL1 CLCN5 

Copyright information

© Children's Hospital, Zhejiang University School of Medicine and Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  • Vladimir J. Lozanovski
    • 1
    • 5
  • N. Ristoska-Bojkovska
    • 2
  • P. Korneti
    • 3
  • Z. Gucev
    • 4
  • V. Tasic
    • 2
  1. 1.Medical School SkopjeUniversity Children’s HospitalSkopjeMacedonia
  2. 2.Department of Pediatric NephrologyUniversity Children’s Hospital, Skopje, Medical School SkopjeSkopjeMacedonia
  3. 3.Department of BiochemistryMedical SchoolSkopjeMacedonia
  4. 4.Department of Pediatric Endocrinology and GeneticsUniversity Children’s Hospital, Skopje, Medical School SkopjeSkopjeMacedonia
  5. 5.Universitätsklinik für Allgemein-, Viszeral- und TransplantationschirurgieUniversität HeidelbergHeidelbergDeutschland

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