A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.
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.
Addis
Maria
M
Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Via Jenner s/n, 09134 Cagliari, Italy.
Meloni
Cristiana
C
Congiu
Rita
R
Santaniello
Simona
S
Emma
Francesco
F
Zuffardi
Orsetta
O
Ciccone
Roberto
R
Cao
Antonio
A
Melis
Maria Antonietta
MA
Cau
Milena
M
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
D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human