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| Status |
Public on Sep 03, 2012 |
| Title |
Mapping of the HUWE1 duplication at Xp11.22 in eight unrelated XLID patients |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by genome tiling array
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| Summary |
In a study to elucidate the genetic defects in patients with X-linked intellectual disability (XLID) we performed X chromosome-specific BAC-array-CGH and identified 0.33 to 1.0 Mb nonrecurrent copy number gains at Xp11.22 in affected males of unrelated XLID families. All aberrations segregate with the disease in the families and the carrier mothers show a nonrandom X-inactivation. Affected males suffered from mild to moderate ID. Tiling Xp11.22 region-specific oligo-array (ChrX:52.50 - 54.50 Mb) revealed that all aberrations had different start and stop sites. The twofold copy number gain included up to 20 genes but only the HUWE1 gene is located in the minimal common region of overlap in these families. Moreover, expression analysis revealed about twofold increased HUWE1 mRNA levels in affected patients when compared to control individuals. Breakpoint analysis revealed Non-homologous end-joining (4 cases), serial replication slippage (1 case) and non-allelic homologous recmbination (one case) as the potential recombination mechanism.
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| Overall design |
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 52.50 Mb to 54.50 Mb at tiling resolution.
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| Contributor(s) |
Vandewalle J, Declercq M, Govaerts K, Martinez F, Mayo S, Rosello M, Whibley A, Raymond L, Berland S, Hovland R, Bose T, Sheffield L, Corbett M, Belet S, Verbeeck J, Marynen P, Froyen G |
| Citation(s) |
22840365 |
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| Submission date |
Oct 13, 2011 |
| Last update date |
Jan 18, 2013 |
| Contact name |
Rekin's Janky |
| E-mail(s) |
[email protected]
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| Organization name |
VIB
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| Department |
Nucleomics Core
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| Street address |
Herestraat 49 Box 816
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| City |
Leuven |
| ZIP/Postal code |
B-3000 |
| Country |
Belgium |
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| Platforms (1) |
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| Samples (8)
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| Relations |
| BioProject |
PRJNA146459 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE32945_RAW.tar |
104.4 Mb |
(http)(custom) |
TAR (of TXT) |
| Processed data included within Sample table |
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