OCRLMutation analysis in Italian patients with Lowe syndrome

• Published in: Human mutation Vol. 23; no. 5; pp. 524 - 525
• Main Authors: Addis, Maria, Loi, Mario, Lepiani, Carmen, Cau, Milena, Melis, Maria Antonietta
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-05-2004; Hindawi Limited
• Subjects: Lowe syndrome; mutation analysis; OCRL; Oculocerebrorenal syndrome
• ISSN: 1059-7794; 1098-1004
• DOI: 10.1002/humu.9239

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. © 2004 Wiley‐Liss, Inc.