title: [Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient].
abstract: The oculo-cerebro-renal syndrome of Lowe is a rare X-linked disorder, caused by the inositol biphosphate 5-phosphatase deficiency, localized to the Golgi complex. Several mutations were reported in patient's OCRL gene leading to enzyme deficiency. We report a Moroccan case of OCRL syndrome of Lowe with a neo mutation in exon 10. The patient aged of 19 months was referred to our medical centre because of a psychomotor retardation. He had a medical history of eye abnormalities including cataract and bilateral glaucoma, diagnosed when he was 5 weeks old. Cataract has been treated after chirurgical therapy but ocular hypertonia persisted. Physical examination revealed an axial hypotonia and walking difficulties. Laboratory tests revealed a moderate acidosis (20 mmol/L), a slight decrease of serum phosphate level (24 mg/L) and an increased serum phosphatase activity. Further studies showed mild proteinuria, urinary bicarbonates loosing and generalised hyperaminoaciduria. Based on both clinical and biological data, Lowe syndrome has been suggested. In this context, molecular investigation has been performed using dHPLC/sequencing techniques which allow identifying an original mutation c.776T>C (p.Phe259Ser), localized on the exon 10 of the OCRL gene. The mutation was not found in the probant's mother suggesting a neo mutation. Lowe syndrome is a rare hereditary X-linked disorder resulting from a variety of heterogeneous mutations of OCRL gene. Indeed, numerous mutations have been reported, variations were noted concerning their localization as well as their type. To our knowledge, this is the first report of the neo mutation c.776T>C of OCRL gene and the first published case report of the Lowe syndrome in a Moroccan patient.
authors.affiliation: Laboratoire de biochimie, Centre d'étude des maladies héréditaires du métabolisme, Hôpital d'enfants de Rabat, Maroc.
authors.forename: L
authors.initials: L
authors.lastname: Chabaâ
authors.forename: N
authors.initials: N
authors.lastname: Monnier
authors.forename: S
authors.initials: S
authors.lastname: Dahri
authors.forename: M
authors.initials: M
authors.lastname: Jorio
authors.forename: J
authors.initials: J
authors.lastname: Lunardi
authors.forename: L
authors.initials: L
authors.lastname: Chabraoui
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D001483:Base Sequence; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009018:Morocco; D020125:Mutation, Missense; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics; D016415:Sequence Alignment; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid
chemical_list: D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human