ArticleJournal of medical genetics2010
Epigenotype-phenotype correlations in Silver-Russell syndrome.
Article in Journal of medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis that pooled it.
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Who cites it
57 citing papers in PubMed, 1 synthesis or guideline pooled it, 218 citations in OpenAlex.
- The Effects of Growth Hormone Treatment Beyond Growth Promotion in Patients with Genetic Syndromes: A Systematic Review of the Literature.International journal of molecular sciences · 2024Pooled it
- Diagnosis and management of Silver-Russell syndrome: second international consensus statement.Nature reviews. Endocrinology · 2026Review
- Longitudinal study of somatic development in Polish patients with Silver-Russell syndrome reveals that chest-to-head proportion as a new clinical indicator for the syndrome.Orphanet journal of rare diseases · 2026Article
- PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion.Scientific reports · 2025Article
- Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.Clinical epigenetics · 2025Article
- Silver-Russell syndrome: phenotype features and oral health status.Orphanet journal of rare diseases · 2025Article
- Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype.Clinical epigenetics · 2025Article
- Skeletal stem/progenitor cell-derived rather than osteoblast-derived IGF2 supports the development and homeostasis of skeletal system via STAT3.International journal of biological sciences · 2025Article
- Approach to the Patient With Suspected Silver-Russell Syndrome.The Journal of clinical endocrinology and metabolism · 2024Review
- Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?BMC pregnancy and childbirth · 2024Article
- Case report: Duplication of theFrontiers in endocrinology · 2024Article
- Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome.International journal of medical sciences · 2024Article
- Imprinting disorders.Nature reviews. Disease primers · 2023Review
- Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome.Movement disorders clinical practice · 2023Article
- Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.Frontiers in genetics · 2023Article
- Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Article
- Article
- Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders.Molecular diagnosis & therapy · 2022Article
- Silver-Russell syndrome and Turner syndrome in a girl with short stature treated with growth hormone - case report.Pediatric endocrinology, diabetes, and metabolism · 2022Article
- Review
Corrections and comments
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Authors and funding
19 authors at 13 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSilver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 are found in 5-10% and up to 60% of patients with SRS, respectively. As many features are non-specific, diagnosis of SRS remains difficult. Studies of patients in whom the molecular diagnosis is confirmed therefore provide valuable clinical information on the condition.
methodsA detailed, prospective study of 64 patients with mUPD7 (n=20) or ICR1 hypomethylation (n=44) was undertaken. RESULTS AND
conclusionsThe considerable overlap in clinical phenotype makes it difficult to distinguish these two molecular subgroups reliably. ICR1 hypomethylation was more likely to be scored as 'classical' SRS. Asymmetry, fifth finger clinodactyly and congenital anomalies were more commonly seen with ICR1 hypomethylation, whereas learning difficulties and referral for speech therapy were more likely with mUPD7. Myoclonus-dystonia has been reported previously in one mUPD7 patient. The authors report mild movement disorders in three further cases. No correlation was found between clinical severity and level of ICR1 hypomethylation. Use of assisted reproductive technology in association with ICR1 hypomethylation seems increased compared with the general population. ICR1 hypomethylation was also observed in affected siblings, although recurrence risk remains low in the majority of cases. Overall, a wide range of severity was observed, particularly with ICR1 hypomethylation. A low threshold for investigation of patients with features suggestive, but not typical, of SRS is therefore recommended.
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