Clinical and Experimental Nephrology

, Volume 12, Issue 5, pp 358–362

Mutations in OCRL1 gene in Indian children with Lowe syndrome

  • Sidharth Kumar Sethi
  • Arvind Bagga
  • Ashima Gulati
  • Pankaj Hari
  • Neerja Gupta
  • Joel Lunardi
Original Article

DOI: 10.1007/s10157-008-0059-0

Cite this article as:
Sethi, S.K., Bagga, A., Gulati, A. et al. Clin Exp Nephrol (2008) 12: 358. doi:10.1007/s10157-008-0059-0

Abstract

Background

Lowe syndrome is an X-linked disorder secondary to mutations involving the OCRL1 gene. There are no data on the spectrum of the disease in the Asian population.

Methods

Detailed clinical assessment, a laboratory assessment which included both glomerular and tubular function tests and genomic DNA analysis, was carried out in six unrelated patients with Lowe syndrome.

Results

Analysis of this gene in six unrelated patients with Lowe syndrome showed novel mutations in four and previously described mutations in two. These included a missense mutation (exon 10), two nonsense mutations (exons 10 and 21), two frameshift mutations (exons 12 and 21) and a mutation at the acceptor site of intron 22. The mothers were found to be heterozygote carriers in four cases.

Conclusions

This is the first report of mutations involving the OCRL1 gene in patients with Lowe syndrome of Indian origin. These observations have implications for genetic counseling and prenatal diagnosis for families with Lowe syndrome.

Keywords

Oculocerebrorenal syndromeOCRL1 geneRenal tubular acidosis

Copyright information

© Japanese Society of Nephrology 2008

Authors and Affiliations

  • Sidharth Kumar Sethi
    • 1
  • Arvind Bagga
    • 1
  • Ashima Gulati
    • 1
  • Pankaj Hari
    • 1
  • Neerja Gupta
    • 2
  • Joel Lunardi
    • 3
  1. 1.Department of Pediatrics, Division of Pediatric NephrologyAll India Institute of Medical SciencesNew DelhiIndia
  2. 2.Department of Pediatrics, Genetics UnitAll India Institute of Medical SciencesNew DelhiIndia
  3. 3.Laboratoire de Biochimie et Génétique Moléculaire & CR INSERM-UJF-CEA-CHU U836Hôpital de La TroncheGrenoble cedexFrance