ArticleClinical epigenetics2020
Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.
Article in Clinical epigenetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype Correlation.Clinical genetics · 2026Review
- 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
- An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.Molecular genetics & genomic medicine · 2025Article
- Approach to the Patient With Suspected Silver-Russell Syndrome.The Journal of clinical endocrinology and metabolism · 2024Review
- DNA methylation in human diseases.Heliyon · 2024Review
- Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis.Frontiers in genetics · 2024Article
- Structure-Function Analysis of p57KIP2 in the Human Pancreatic Beta Cell Reveals a Bipartite Nuclear Localization Signal.Endocrinology · 2023Article
- Article
- IGF2 interacts with the imprinted gene Cdkn1c to promote terminal differentiation of neural stem cells.Development (Cambridge, England) · 2023Article
- Deep exploration of aJournal of medical genetics · 2022Article
- Article
- Isolated Hypomethylation ofDiagnostics (Basel, Switzerland) · 2021Article
- New Horizons in Short Children Born Small for Gestational Age.Frontiers in pediatrics · 2021Review
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPathogenic CDKN1C gain-of-function variants on the maternal allele were initially reported as a cause of IMAGe syndrome characterized by intrauterine growth retardation, metaphyseal dysplasia, primary adrenal insufficiency and genital anomalies. Recently, a maternally inherited CDKN1C missense mutation (p.Arg279Leu) was identified in several members of a single family clinically diagnosed with Silver-Russell syndrome (SRS) but without adrenal insufficiency. Thereafter, two half siblings from UK with familial SRS were described who carried the same mutation. This specific amino acid change is located within a narrow functional region containing the mutations previously associated with IMAGe syndrome.
resultsHere, we describe a third familial case with maternally inherited SRS due to a missense variant affecting the same amino acid position 279 but leading to a different amino acid substitution (p. (Arg279Ser)). The two affected family members (mother and son) presented with the complete SRS phenotype (both Netchine-Harbison CSS score 5 of 6) but without body asymmetry or adrenal insufficiency.
conclusionsIn comparison with loss-of-function genomic IGF2 mutations, CDKN1C gain-of-function mutations are a less frequent cause of SRS and seem to affect a cluster of few amino acids.
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