title: Novel mutation of OCRL1 in Lowe syndrome.
abstract: Lowe syndrome is a rare, X-linked recessive genetic disease with multi-organ involvement. The pathogenic gene is OCRL1. The authors analyzed the OCRL1 mutation and summarized the clinical features of a Chinese child with Lowe syndrome. The patient is a 3 year 7 mo-old boy. He presented with hypotonia at birth and gradually presented with bilateral congenital cataracts, psychomotor retardation, hypophosphatemic rickets and renal tubular function disorder. Sequence analysis of OCRL1 revealed a novel insertion mutation, c.2367insA (p. Ala813X), in exon 22. This mutation was suspected to cause a premature stop codon of OCRL1 and truncation of the OCRL1 protein. His mother, who carried a heterozygous mutation, had no sign of abnormality.
authors.affiliation: Department of Pediatrics, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, 510080, People's Republic of China.
authors.forename: Ting
authors.initials: T
authors.lastname: Liu
authors.forename: Zhihui
authors.initials: Z
authors.lastname: Yue
authors.forename: Haiyan
authors.initials: H
authors.lastname: Wang
authors.forename: Huajuan
authors.initials: H
authors.lastname: Tong
authors.forename: Liangzhong
authors.initials: L
authors.lastname: Sun
mesh_terms: D044466:Asian People / Q000235:genetics; D002386:Cataract / Q000151:congenital / Q000175:diagnosis; D002675:Child, Preschool; D018389:Codon, Nonsense; D053098:Familial Hypophosphatemic Rickets / Q000175:diagnosis*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology; D008297:Male; D009154:Mutation; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D010710:Phosphates / Q000097:blood; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D051437:Renal Insufficiency / Q000175:diagnosis / Q000209:etiology
chemical_list: D018389:Codon, Nonsense; D010710:Phosphates; D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human