title: A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.
abstract: The oculocerebrorenal syndrome of Lowe (OCRL) (MIM:309000) is an X-linked multisystemic disorder affecting the eyes, nervous system and kidneys due to mutations in OCRL1 gene. The gene contains 24 exons, and encodes a 105kDa phosphatydylinositol 4,5-biphosphate [PtdIns(4,5)P(2)] 5-phosphatase localized primarily in the trans-Golgi network and the lysosomes. The large majority of the OCRL1 mutations producing Lowe syndrome are either missense mutations localized mainly in the catalytic domain or non-sense/frameshift mutations resulting in truncated proteins. Rarely, in about 6% of the cases, the disease results from large gene deletions occurring in the 5' part of the gene. Here we report a new case of a patient with Lowe syndrome due to a deletion of about 4Mb, encompassing the OCRL1 gene, detected by PCR and CGH array. The mother was carrier of the same deletion.
authors.affiliation: Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Via Jenner s/n, 09134 Cagliari, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Addis
authors.forename: Cristiana
authors.initials: C
authors.lastname: Meloni
authors.forename: Rita
authors.initials: R
authors.lastname: Congiu
authors.forename: Simona
authors.initials: S
authors.lastname: Santaniello
authors.forename: Francesco
authors.initials: F
authors.lastname: Emma
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Roberto
authors.initials: R
authors.lastname: Ciccone
authors.forename: Antonio
authors.initials: A
authors.lastname: Cao
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Melis
authors.forename: Milena
authors.initials: M
authors.lastname: Cau
mesh_terms: D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics
chemical_list: D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human