2010
DOI: 10.1002/ajmg.c.30274
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Russell–Silver syndrome

Abstract: In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively "young" imprinting disorder. This congenital disease is characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry, and further less constant characteristic features. Genetic and epigenetic disturbances can meanwhile be detected in approximately 50% of patients with typical RSS features. Up to 5% of patients carry a maternal uniparental disomy of chr… Show more

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Cited by 107 publications
(108 citation statements)
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“…Recent studies have identified epimutation (hypomethylation) of the paternally derived H19 ‐differentially methylated region (DMR) at the imprinting control region 1 (ICR1) on chromosome 11p15.5 in ∼45% of SRS patients and maternal uniparental disomy 7 (upd(7)mat) in 5–10% of SRS patients, in addition to rare underlying factors such as duplications of maternally derived chromosome 11p15.5 involving CDKN1C at the ICR2 just proximal to the ICR1, relatively mild gain‐of‐function mutations of CDKN1C , loss‐of‐function mutations of IGF2 , epimutation (hypomethylation) of the IG‐DMR and/or the MEG3 ‐DMR on chromosome 14q32.2 imprinted region of paternal origin, upd(14)mat, upd(16)mat, and upd(20)mat [Eggermann, 2010; Binder et al, 2011; Brioude et al, 2013; Poole et al, 2013; Azzi et al, 2014; Begemann et al, 2015; Kagami et al, 2015; Nakashima et al, 2015]. Here, we report an SRS patient with somatic mosaicism for upd(11)mat that was identified by buccal cell analysis.…”
Section: To the Editormentioning
confidence: 99%
“…Recent studies have identified epimutation (hypomethylation) of the paternally derived H19 ‐differentially methylated region (DMR) at the imprinting control region 1 (ICR1) on chromosome 11p15.5 in ∼45% of SRS patients and maternal uniparental disomy 7 (upd(7)mat) in 5–10% of SRS patients, in addition to rare underlying factors such as duplications of maternally derived chromosome 11p15.5 involving CDKN1C at the ICR2 just proximal to the ICR1, relatively mild gain‐of‐function mutations of CDKN1C , loss‐of‐function mutations of IGF2 , epimutation (hypomethylation) of the IG‐DMR and/or the MEG3 ‐DMR on chromosome 14q32.2 imprinted region of paternal origin, upd(14)mat, upd(16)mat, and upd(20)mat [Eggermann, 2010; Binder et al, 2011; Brioude et al, 2013; Poole et al, 2013; Azzi et al, 2014; Begemann et al, 2015; Kagami et al, 2015; Nakashima et al, 2015]. Here, we report an SRS patient with somatic mosaicism for upd(11)mat that was identified by buccal cell analysis.…”
Section: To the Editormentioning
confidence: 99%
“…The Beckwith-Weidemann syndrome (BWS) often associates with overexpression of the normally maternally silenced and paternally expressed IGF2 (29). The opposing Silver-Russell syndrome (SRS) often arises by repression of IGF2 (30). Not all cases have a known direct association to IGF2.…”
Section: Growth Pathologies: Morphology and Behaviormentioning
confidence: 99%
“…BWS individuals typically become adults of normal size and proportion, suggesting that the growth abnormalities are concentrated in the preweaning period associated with the primary demands on maternal resources. SRS individuals are small at birth and remain small through development, have significantly reduced subcutaneous fat, and have poor muscle tone (30). SRS babies typically lack interest in feeding and may have difficulty taking more than a small amount of food (31).…”
Section: Growth Pathologies: Morphology and Behaviormentioning
confidence: 99%
“…This imprinted expression of transcripts is crucial for normal mammalian development. In humans, loss-of-imprinting of specific loci results in a number of diseases exemplified by the reciprocal growth phenotypes of the Beckwith-Wiedemann and Silver-Russell syndromes, and the behavioral disorders Angelman and Prader-Willi syndromes (Kagami et al 2008;Buiting 2010;Choufani et al 2010;Eggermann 2010;Kelsey 2010;Mackay and Temple 2010). In addition, aberrant imprinting also contributes to multigenic disorders associated with various complex traits and cancer (Kong et al 2009;Monk 2010).…”
mentioning
confidence: 99%