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Genome-wide UPD screening in patients with intellectual disability

Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. It may occur as isodisomy, heterodisomy or a combination of both and may involve only chromosome segments. UPD can affect each chromosome. The incidence is estimated to be around 1:3500 in live births....

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Main Authors: Schroeder, Christopher Maximilian (Author) , Ekici, Arif Bülent (Author) , Moog, Ute (Author) , Grasshoff, Ute (Author) , Mau-Holzmann, Ulrike (Author) , Sturm, Marc (Author) , Vosseler, Vanessa (Author) , Poths, Sven (Author) , Rappold, Gudrun (Author) , Riess, Angelika (Author) , Riess, Olaf (Author) , Dufke, Andreas (Author) , Bonin, Michael (Author)
Format: Article (Journal)
Language:English
Published: 7 May 2014
In: European journal of human genetics
Year: 2014, Volume: 22, Issue: 10, Pages: 1233-1235
ISSN:1476-5438
DOI:10.1038/ejhg.2014.63
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ejhg.2014.63
Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/ejhg201463
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Author Notes:Christopher Schroeder, Arif Bülent Ekici, Ute Moog, Ute Grasshoff, Ulrike Mau-Holzmann, Marc Sturm, Vanessa Vosseler, Sven Poths, Gudrun Rappold, Angelika Riess, Olaf Riess, Andreas Dufke and Michael Bonin
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Summary:Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. It may occur as isodisomy, heterodisomy or a combination of both and may involve only chromosome segments. UPD can affect each chromosome. The incidence is estimated to be around 1:3500 in live births. Some parts of chromosomes are subject to ‘parent-of-origin imprinting’ and the phenotypic effect in UPD syndromes is mainly due to functional imbalance of imprinted genes. Isodisomy can result in mutation homozygosity in autosomal-recessive inherited diseases. UPD causes several well-defined imprinting syndromes associated with intellectual disability (ID). Although knowledge on frequency and size of UPDs in patients with unexplained ID remains largely unknown as no efficient genome-wide screening technique was available for detection of both isodisomic and heterodisomic UPDs. SNP microarrays have been proven to be capable to detect UPDs through Mendelian errors. The correct subclassification of UPD requires child-parent trio experiments. To further elucidate the role of UPD in patients with unexplained ID, we analyzed a total of 322 child-parent trios. We were not able to detect UPDs (isodisomies and heterodisomies) within our cohort spanning whole chromosomes or chromosomal segments. We conclude that UPD is rare in patients with unexplained ID.
Item Description:Gesehen am 22.07.2020
Physical Description:Online Resource
ISSN:1476-5438
DOI:10.1038/ejhg.2014.63

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