title: OCRL mutation analysis in Italian patients with Lowe syndrome.
abstract: The oculocerebrorenal syndrome of Lowe (OCRL, also called OCRL1) is a rare X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. The gene responsible for OCRL was identified by positional cloning and encodes an inositol polyphosphate-5-phosphatase. We performed the molecular analysis in 9 Italian patients and 26 relatives and we detected the mutations in all the examined patients. Eight mutations out of nine had never been described and consisted of truncating mutations (frameshift, nonsense, splice site and genomic deletion), and missense mutations. The mutations were distributed in the second half of the gene as previously described in other populations. In three cases the mutations were absent in the mothers confirming the occurrence of novel mutations in this disorder. Our results on the Italian population are similar to the data previously obtained in other populations.
authors.affiliation: Dipartimento Scienze Biomediche e Biotecnologie Università degli studi di Cagliari, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Addis
authors.forename: Mario
authors.initials: M
authors.lastname: Loi
authors.forename: Carmen
authors.initials: C
authors.lastname: Lepiani
authors.forename: Milena
authors.initials: M
authors.lastname: Cau
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Melis
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D000072181:Inositol Polyphosphate 5-Phosphatases; D007558:Italy; D008297:Male; D009154:Mutation; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*
chemical_list: D010744:Phosphoric Monoester Hydrolases; D000072181:Inositol Polyphosphate 5-Phosphatases