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Mutations in OCRL1 gene in Indian children with Lowe syndrome
Sidharth Kumar Sethi1, Arvind Bagga2, Ashima Gulati1
1Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, Delhi, 110029, India.
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.
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