Dataset Information


Mapping of the GDI1 duplication at Xq28 in four unrelated XLMR patients

ABSTRACT: In a study to elucidate the genetic defects in patients with X-linked mental retardation (XLMR) we performed X chromosome-specific BAC-array-CGH and identified a 0.33 Mb inherited recurrent copy number gain at Xq28 in affected males of four unrelated XLMR families. All aberrations segregate with the disease in the families and the carrier mothers show a nonrandom X-inactivation. Tiling Xq28 region-specific oligo-array revealed that all aberrations start at the same position (153.218 Mb) and end between 153.530 and 154.542 Mb. The copy number gain is complex in nature but always included 18 genes of which three, RPL10, ATP6AP1 and GDI1, are highly expressed in brain. From these, the copy number of GDI1 correlated with the severity of clinical features since it was duplicated in one family with nonsyndromic moderate MR, triplicated in males from two families with mild MR and additional features, while in a fourth family with a severe syndromic form of MR, it was present in four copies. Moreover, expression analysis revealed copy number-dependent increased mRNA levels in affected patients compared to control individuals. Interestingly, the breakpoint junction regions suggested a yet unknown recombination mechanism between two adjacent but different sets of low copy repeats. For duplication mapping and exact copy number analysis in all four families, differentially-labeled patient versus male control DNA samples were hybridized onto a custom designed 4x44k oligo-array (Agilent Technologies) that covers the repeat-masked region 152.70 Mb to 153.65 Mb at tiling resolution.

ORGANISM(S): Homo sapiens  

SUBMITTER: Joke Allemeersch   Karen Govaerts  Jelle Verbeeck  Montserrat Mila  Hilde Van Esch  Jürgen Kohlhase  Isabel Fernandez  Peter Marynen  Christiane Zweier  Irene Madrigal  Anita Rauch  Elly Pijkels  Jean-Pierre Fryns  Guy Froyen  Detlef Böhm  Christiane Spaich  Joke Vandewalle 

PROVIDER: E-GEOD-17813 | ArrayExpress | 2010-08-16



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Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

Vandewalle Joke J   Van Esch Hilde H   Govaerts Karen K   Verbeeck Jelle J   Zweier Christiane C   Madrigal Irene I   Mila Montserrat M   Pijkels Elly E   Fernandez Isabel I   Kohlhase Jürgen J   Spaich Christiane C   Rauch Anita A   Fryns Jean-Pierre JP   Marynen Peter P   Froyen Guy G  

American journal of human genetics 20091201 6

We report on the identification of a 0.3 Mb inherited recurrent but variable copy-number gain at Xq28 in affected males of four unrelated families with X-linked mental retardation (MR). All aberrations segregate with the disease in the families, and the carrier mothers show nonrandom X chromosome inactivation. Tiling Xq28-region-specific oligo array revealed that all aberrations start at the beginning of the low copy repeat LCR-K1, at position 153.20 Mb, and end just distal to LCR-L2, at 153.54  ...[more]

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