Different mechanisms cause hypomethylation of both h19 and kcnq1ot1 imprinted differentially methylated regions in two cases of silver-russell syndrome spectrum

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SUMMARY

Silver-Russell syndrome (SRS; OMIM #180860; also SRS2: #618905; SRS3: #616489; SRS4: #618907; SRS5: #618908. The definition of the Silver-Russell syndrome spectrum (SRSp) has been proposed to include all the cases with a clinical score and amp;lt; 4 but that still show clinical or molecular features of SRS. The telomeric domain encodes two genes with reciprocal imprinting: the insulin-like growth factor 2 (IGF2) gene is expressed from the paternal chromosome and encodes a foetal growth factor, and the H19 gene is expressed from the maternal chromosome and encodes a non-coding . . .

 



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