Mutations in OCRL1 gene in Indian children with Lowe syndrome.
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.
Sethi
Sidharth Kumar
SK
Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, Delhi, 110029, India.
Bagga
Arvind
A
Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, Delhi, 110029, India. arvindbagga@hotmail.com.
Gulati
Ashima
A
Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, Delhi, 110029, India.
Hari
Pankaj
P
Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, Delhi, 110029, India.
Gupta
Neerja
N
Department of Pediatrics, Genetics Unit, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, Delhi, 110029, India.
Lunardi
Joel
J
Laboratoire de Biochimie et Génétique Moléculaire & CR INSERM-UJF-CEA-CHU U836, Hôpital de La Tronche, CHU Grenoble BP 217X, 38043, Grenoble cedex, France.
D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D007194:India; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D011296:Prenatal Diagnosis
D018389:Codon, Nonsense; D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human