PMID: 18404973Apr 15, 2008Paper

ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome features

Journal of Pediatric Endocrinology & Metabolism : JPEM
Thomas EggermannNadine Schönherr

Abstract

(Epi)mutations affecting chromosome llp15 are well known to be associated with growth disturbances. The finding of llp15 mutations in the overgrowth disease Beckwith-Wiedemann syndrome led to the identification of imprinted growth-promoting genes which are expressed paternally and of imprinted growth-suppressing genes in the same region that are expressed maternally. An opposite epimutation in the same region is associated with Silver-Russell syndrome (SRS), a growth retardation disorder characterised by a typical facial gestalt, clinodactyly V and asymmetry. In more than 30% of patients with SRS, hypomethylation of the telomeric llp15 imprinting domain (ICR1) can be detected. However, the general significance of this epimutation for human growth retardation was unclear. In a previous study' we showed that the ICR1 epimutation is not present in growth retarded patients with dysmorphisms not typical for SRS, but its role in the development of isolated growth restriction needed to be further elucidated. We therefore screened 30 patients with isolated pre- and postnatal growth retardation (IUGR/PNGR) and 65 patients diagnosed with SRS by external clinicians for ICR1I epimutations. In the latter group clinical data were rarely prov...Continue Reading

Citations

Jan 28, 2010·European Journal of Human Genetics : EJHG·Claire Louise Susan TurnerI Karen Temple
May 5, 2009·Nature Reviews. Rheumatology·Emmanuel KarouzakisMichel Neidhart

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