LIT1 and H19 methylation defects in isolated hemihyperplasia

Rick A. Martin; Dorothy K. Grange; Babara Zehnbauer; Michael R. DeBaun

doi:10.1002/ajmg.a.30578

LIT1 and H19 methylation defects in isolated hemihyperplasia

Rick A. Martin, Dorothy K. Grange, Babara Zehnbauer, Michael R. DeBaun

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34 Scopus citations

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.

Original language	English
Pages (from-to)	129-131
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	134 A
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.30578
State	Published - Apr 15 2005

Keywords

BWS
Beckwith-Wiedemann syndrome
H19
Hemihyperplasia
Imprinting
LIT1
Methylation

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10.1002/ajmg.a.30578

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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.",

keywords = "BWS, Beckwith-Wiedemann syndrome, H19, Hemihyperplasia, Imprinting, LIT1, Methylation",

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KW - Imprinting

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LIT1 and H19 methylation defects in isolated hemihyperplasia

Abstract

Keywords

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