Dataset Information


NF1 microdeletions characterization by custom high-resolution array CGH

ABSTRACT: To allow accute charaterization of NF1 locus constitutional microdeletion in 70 NF1 patients, a custom array CGH was developped. Goal was to obtain genomic rearrangements fine characterization in order to perform genotype-phenotype correlation in NF1 microdeleted patients. To serve as a reference group in our genotype-phenotype correlation study in NF1 microdeletion patients, non-deleted NF1 patients (i.e. patients with an intragenic NF1 mutation) were also selected from our database. A total of 389 NF1 patients were included in the reference group of non-deleted patients. Multiple logistic regression was performed to test the association of each clinical feature individually with the type of constitutional NF1 mutation (intragenic mutation vs. microdeletion). The phenotypic traits of the 389 reference patients are available in the "GSE19730_control_patient_characteristics.txt" supplementary file on the Series record. NF1 locus microdeletions characterization vs reference sample (pool of six normal control DNAs)

ORGANISM(S): Homo sapiens  

SUBMITTER: Béatrice Parfait   Meena Upadhyaya  Pierre Wolkenstein  Ingrid Laurendeau  Eric Pasmant  Dominique Vidaud  Michel Vidaud  Audrey Sabbagh  Ivan Bièche 

PROVIDER: E-GEOD-19730 | ArrayExpress | 2010-05-26



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Detection and characterization of NF1 microdeletions by custom high resolution array CGH.

Pasmant Eric E   Sabbagh Audrey A   Masliah-Planchon Julien J   Haddad Véronique V   Hamel Marie-José MJ   Laurendeau Ingrid I   Soulier Jean J   Parfait Béatrice B   Wolkenstein Pierre P   Bièche Ivan I   Vidaud Michel M   Vidaud Dominique D  

The Journal of molecular diagnostics : JMD 20090918 6

In 5% to 10% of cases, neurofibromatosis type 1 is caused by microdeletions scattered across the entire NF1 gene and various neighboring genes. The phenotype appears to be more severe in patients with NF1 microdeletions than in patients with NF1 single point mutations. We have developed a new method for detecting and characterizing NF1 microdeletions based on a custom high-resolution oligonucleotide array comparative genomic hybridization by using the custom 8x15K Agilent array format. The array  ...[more]

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