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Title
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17q24.2 microdeletions : a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
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Author
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Abstract
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| Although microdeletions of the long arm of chromosome 17 are being reported with increasing frequency, deletions of chromosome band 17q24.2 are rare. Here we report four patients with a microdeletion encompassing chromosome band 17q24.2 with a smallest region of overlap of 713 kb containing five Refseq genes and one miRNA. The patients share the phenotypic characteristics, such as intellectual disability (4/4), speech delay (4/4), truncal obesity (4/4), seizures (2/4), hearing loss (3/4) and a particular facial gestalt. Hallucinations and mood swings were also noted in two patients. The PRKCA gene is a very interesting candidate gene for many of the observed phenotypic features, as this gene plays an important role in many cellular processes. Deletion of this gene might explain the observed truncal obesity and could also account for the hallucinations and mood swings seen in two patients, whereas deletion of a CACNG gene cluster might be responsible for the seizures observed in two patients. In one of the patients, the PRKAR1A gene responsible for Carney Complex and the KCNJ2 gene causal for Andersen syndrome are deleted. This is the first report of a patient with a whole gene deletion of the KCNJ2 gene. European Journal of Human Genetics (2012) 20, 534-539; doi:10.1038/ejhg.2011.239; published online 14 December 2011 |
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Language
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English
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Source (journal)
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European journal of human genetics / European Society of Human Genetics. - Leiden
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Publication
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Leiden
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2012
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ISSN
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1018-4813
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DOI
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10.1038/EJHG.2011.239
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Volume/pages
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20
:5
(2012)
, p. 534-539
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ISI
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000303016800019
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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