title: Mutations in OCRL1 gene in Indian children with Lowe syndrome.
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.
authors.affiliation: Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, Delhi, 110029, India.
authors.forename: Sidharth Kumar
authors.initials: SK
authors.lastname: Sethi
authors.affiliation: Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, Delhi, 110029, India. arvindbagga@hotmail.com.
authors.forename: Arvind
authors.initials: A
authors.lastname: Bagga
authors.affiliation: Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, Delhi, 110029, India.
authors.forename: Ashima
authors.initials: A
authors.lastname: Gulati
authors.affiliation: Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, Delhi, 110029, India.
authors.forename: Pankaj
authors.initials: P
authors.lastname: Hari
authors.affiliation: Department of Pediatrics, Genetics Unit, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, Delhi, 110029, India.
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.affiliation: Laboratoire de Biochimie et Génétique Moléculaire & CR INSERM-UJF-CEA-CHU U836, Hôpital de La Tronche, CHU Grenoble BP 217X, 38043, Grenoble cedex, France.
authors.forename: Joel
authors.initials: J
authors.lastname: Lunardi
mesh_terms: 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
chemical_list: D018389:Codon, Nonsense; D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human