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Master Thesis

Mise au point du dosage génique du gène OCRL1 par Multiplex Ligation-dependent Probe Amplification (MLPA)‎ : application au syndrome de Lowe et à la maladie de Dent

Abstract : The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked recessively inherited disease characterized by a severe pleiotropic phenotype including mental retardation, bilateral congenital cataract and renal Fanconi syndrome. Dent disease (DD) is an X-linked renal proximal tubulopathy. Mutations in the OCRL1 gene (oculocerebrorenal syndrome of Lowe, type 1) have been associated with both diseases but most of all with OCRL. While more than 150 mutations have been described to date only 5 % are exonic deletions. Moreover no duplication (homogen or mosaic) and no deletion mosaicism have yet been described in the both diseases. We have designed four synthetic mutiplex ligation-dependent probe amplification (MLPA) probe sets that measures exons copy number in OCRL1 gene with high precision allowing rapid gene quantification. After OCRL1 MLPA probe sets validation, we screened four female patients with an affected relative harbouring a known genomic deletion and 11 male and 4 female patients presenting with an incomplete phenotype or even typical for two of them and previously diagnosed as sequence-negative. Two of four female were detected as carrier for the mutation previously identified in the affected relative. Neither deletion nor duplication (mosaic or homogen) were found in the 15 patients with a milder or complete phenotype, and previously diagnosed as sequence-negative, thus ruling out the involvement of OCRL1 gene. These results of our study provide no further evidence for the hypothesis that duplications and somatic mosaic deletions account the fraction of patients who have no detectible mutation after the usual screening procedures.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-01059523
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Submitted on : Monday, September 1, 2014 - 11:08:30 AM
Last modification on : Wednesday, July 15, 2020 - 8:56:03 AM
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  • HAL Id : dumas-01059523, version 1

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Charles Coutton. Mise au point du dosage génique du gène OCRL1 par Multiplex Ligation-dependent Probe Amplification (MLPA)‎ : application au syndrome de Lowe et à la maladie de Dent. Sciences pharmaceutiques. 2009. ⟨dumas-01059523⟩

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