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H19

Sunday 23 November 2003

The H19 differentially methylated region (DMR) controls the allele-specific expression of both the imprinted H19 tumor-suppressor gene and the IGF2 growth factor.

Hypermethylation of this DMR, and subsequently of the H19 promoter region, is a major cause of the clinical features of gigantism and/or asymmetry seen in Beckwith-Wiedemann syndrome or in isolated hemihypertrophy.

Pathology

- H19 hypermethylation and deletions in the H19 differentially methylated region (DMR) in Beckwith-Wiedemann syndrome (BWS) (MIM.130650)

- H19 hypomethylation in Silver-Russell syndrome (SRS) and isolated asymmetry or SRS-like phenotype (16532391)

References

- Arney KL. H19 and Igf2—enhancing the confusion? Trends Genet. 2003 Jan;19(1):17-23. PMID: 12493244

- Hurst LD, Smith NG. Molecular evolutionary evidence that H19 mRNA is functional. Trends Genet. 1999 Apr;15(4):134-5. PMID: 10203817