title: Novel OCRL mutations in Chinese children with Lowe syndrome.
abstract: BACKGROUND
  Lowe syndrome is a rare X-linked recessive hereditary disease caused by mutations of the OCRL gene, which encodes an inositol polyphosphate-5-phosphatase. The disease is clinically characterized by congenital cataracts, psychomotor retardation, and proximal tubulopathy.
  
  
  METHODS
  We retrospectively reviewed three unrelated Chinese patients with Lowe syndrome, clinically diagnosed by the abnormalities of eyes, nervous system, and kidneys. Genetic analysis of the OCRL gene was done for the three patients as well as their family members.
  
  
  RESULTS
  Three OCRL gene mutations were detected in our study. Two of the mutations, g.1897delT in exon 18 (patient 1) and g.1470delG in exon 15 (patient 2), were novel. A missense mutation (p.Y513C) in exon 15, which had been reported previously, was found in patient 3. The mothers of all patients were heterozygous carriers of the respective mutations.
  
  
  CONCLUSIONS
  Three Chinese children were diagnosed with Lowe syndrome through clinical and genetic analyses. And two novel mutations in the OCRL gene were identified.
authors: Department of Pediatrics, Peking University First Hospital, 100034 Beijing, China.
authors: Yan-Qin
authors: YQ
authors: Zhang
authors: Fang
authors: F
authors: Wang
authors: Jie
authors: J
authors: Ding
authors: Hui
authors: H
authors: Yan
authors: Yan-Ling
authors: YL
authors: Yang
mesh_terms: D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human
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