1. Figure 3 Mutations and epimutations of the imprinted
region at chromosome 11p15 associated with Silver– Russell syndrome
Figure 3 | Mutations and epimutations of the imprinted region at chromosome 11p15 associated with Silver–Russell syndrome. The structure of the 11p15 region is represented as in Fig. 2. Paternal hypomethylation of H19/IGF2 IG-DMR results in loss of paternal IGF2 expression and gain of maternal H19 expression, which leads to a growth restriction phenotype9. Less commonly, maternal duplication of the centromeric or both domains results in growth retardation due to increased dosage of CDKN1C; however, smaller copy number variants should be classified with caution due to the complex regulation of the region27. Rare familial cases have been associated with a maternal CDKN1C gain-of-function mutation (green cross)60 or a paternal IGF2 loss-of-function mutation (red cross)61.
Wakeling, E. L. et al. (2016) Diagnosis and management of Silver–Russell syndrome: first international consensus statement
Nat. Rev. Endocrinol. doi: /nrendo