Abstract
We performed LIT1 and H19 methylation studies on 27 children with isolated hemihyperplasia (IH). Eight children (29.6%) had a defect in methylation of one or both of these alleles, supporting our hypothesis that these epigenetic changes can result in a phenotype distinct from typical Beckwith-Wiedemann syndrome.
(c) 2005 Wiley-Liss, Inc.
MeSH terms
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / pathology*
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Abnormalities, Multiple / physiopathology
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Adolescent
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Beckwith-Wiedemann Syndrome / genetics
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Beckwith-Wiedemann Syndrome / pathology
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Beckwith-Wiedemann Syndrome / physiopathology
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Body Height / genetics
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Body Weight / genetics
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Child
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Child, Preschool
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DNA Methylation*
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Female
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Humans
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Infant
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Male
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Membrane Proteins / genetics*
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Potassium Channels, Voltage-Gated / genetics*
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RNA, Long Noncoding
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RNA, Untranslated / genetics*
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Uniparental Disomy
Substances
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H19 long non-coding RNA
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KCNQ1OT1 long non-coding RNA, human
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Membrane Proteins
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Potassium Channels, Voltage-Gated
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RNA, Long Noncoding
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RNA, Untranslated