A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome

Maria Addis, Cristiana Meloni, Rita Congiu, Simona Santaniello, Francesco Emma, Orsetta Zuffardi, Roberto Ciccone, Antonio Cao, Maria Antonietta Melis, Milena Cau

Research output: Contribution to journalArticlepeer-review

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 105 kDa phosphatydylinositol 4,5-biphosphate [PtdIns(4,5)P2] 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 4 Mb, encompassing the OCRL1 gene, detected by PCR and CGH array. The mother was carrier of the same deletion.

Original languageEnglish
Pages (from-to)79-84
Number of pages6
JournalEuropean Journal of Medical Genetics
Volume50
Issue number1
DOIs
Publication statusPublished - Jan 2007

Keywords

  • Array-CGH
  • Lowe's syndrome
  • OCRL1
  • Xq25 microdeletion

ASJC Scopus subject areas

  • Genetics

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