Unknown,Transcriptomics,Genomics,Proteomics

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X chromosome-specific Array-CGH of XLMR patient


ABSTRACT: Mental retardation (MR) is a non-progressive cognitive impairment affecting 2 to 3% of the Western population. So far, point mutations and subtle deletions and insertions have been shown to represent only a proportion (<40%) of genetic causes underlying X-linked mental retardation (XLMR). We have screened a subset of 300 presumable X-linked families by X chromosome-specific array-CGH and identified 6 families with overlapping microduplications at Xp11.22 containing two candidate genes; both of which showed overexpression in the affected individuals. Array-CGH data revealed aberrant Cy5/Cy3 log2 ratios for different but overlapping sets of clones indicating varying sizes of these duplications in the different families. X chromosome-specific array-CGH performed for probands of families A, FAM3, B, MRX17, C, MRX31, and D, A057, revealing the duplications at Xp11.22. DNA from two unrelated MR patients were differentially labeled and co-hybridized onto the X-array. The patients with duplications were hybridized in Cy5 against unrelated MR patients, named Pat XY1-6, in the Cy3 channel.

ORGANISM(S): Homo sapiens

SUBMITTER: Guy Froyen 

PROVIDER: E-GEOD-9143 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Froyen Guy G   Corbett Mark M   Vandewalle Joke J   Jarvela Irma I   Lawrence Owen O   Meldrum Cliff C   Bauters Marijke M   Govaerts Karen K   Vandeleur Lucianne L   Van Esch Hilde H   Chelly Jamel J   Sanlaville Damien D   van Bokhoven Hans H   Ropers Hans-Hilger HH   Laumonnier Frederic F   Ranieri Enzo E   Schwartz Charles E CE   Abidi Fatima F   Tarpey Patrick S PS   Futreal P Andrew PA   Whibley Annabel A   Raymond F Lucy FL   Stratton Michael R MR   Fryns Jean-Pierre JP   Scott Rodney R   Peippo Maarit M   Sipponen Marjatta M   Partington Michael M   Mowat David D   Field Michael M   Hackett Anna A   Marynen Peter P   Turner Gillian G   Gécz Jozef J  

American journal of human genetics 20080124 2


Submicroscopic copy-number imbalances contribute significantly to the genetic etiology of human disease. Here, we report a novel microduplication hot spot at Xp11.22 identified in six unrelated families with predominantly nonsyndromic XLMR. All duplications segregate with the disease, including the large families MRX17 and MRX31. The minimal, commonly duplicated region contains three genes: RIBC1, HSD17B10, and HUWE1. RIBC1 could be excluded on the basis of its absence of expression in the brain  ...[more]

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