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Analyse génétique et fonctionnelle du gène OCRL1 associé au syndrome de Lowe

Abstract : The OCRL1 gene, responsible for Lowe syndrome X-linked disease, encodes a PIP2 5-phosphatase localized in the trans Golgi network. 107 mutations were identified among 146 families. Segregation analysis showed three cases of germinal and somatic mosaicism among 18 families. 6 mutations were identified in the OCRL1 gene in 23 patients affected with Dent disease but without CLCN5 mutation. The PIP2 5-phosphatase activity in total fibroblast cellular extracts of 23 patients (21 Lowe and 2 Dent) is greatly reduced compared to normal fibroblast. Western blot analysis of the OCRL1 protein showed an important reduction for the splicing mutations and the genomic deletion but a more variable quantity for the misssense mutations. OCRL1 transcript are present in variable quantity in the patients affected with Lowe syndrome but also in the control patients. The preliminary clinical study of 55 patients with Lowe syndrome showed no evidence of a genotype-phenotype correlation.
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https://tel.archives-ouvertes.fr/tel-00214166
Contributor : Véronique Satre <>
Submitted on : Wednesday, January 23, 2008 - 3:14:34 PM
Last modification on : Wednesday, January 23, 2008 - 3:41:22 PM
Long-term archiving on: : Thursday, September 27, 2012 - 5:39:29 PM

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  • HAL Id : tel-00214166, version 1

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Véronique Satre. Analyse génétique et fonctionnelle du gène OCRL1 associé au syndrome de Lowe. Biologie cellulaire. Université Joseph-Fourier - Grenoble I, 2007. Français. ⟨tel-00214166⟩

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