ArticleEuropean journal of human genetics : EJHG2016
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.
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Who cites it
78 citing papers in PubMed, 189 citations in OpenAlex.
- Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis.Annals of medicine · 2026Article
- Molecular Pathogenesis, Tumor Microenvironment and Health Disparities in Select Pediatric Solid Tumors: An Integrative Narrative Review.Diseases (Basel, Switzerland) · 2026Review
- Beckwith-Wiedemann syndrome and medullary sponge kidney: a case report of two rare but related entities.The Canadian journal of urology · 2026Article
- Comparison of bone age between both limbs in patients with congenital hemihyperplasia or hemihypoplasia: A retrospective study.Journal of children's orthopaedics · 2026Article
- Recent advances in neonatal Beckwith-Wiedemann syndrome: from molecular diagnosis to multidisciplinary management-a narrative review.Translational pediatrics · 2026Review
- Human Endogenous Retroviruses and Epigenetic Regulators Are Dysregulated in Beckwith-Wiedemann Syndrome.Current issues in molecular biology · 2026Article
- Characterization of placental pathology in Beckwith-Wiedemann Syndrome due to alterations in the KCNQ1OT1:TSS-DMR region.Placenta · 2025Article
- Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.Italian journal of pediatrics · 2025Review
- Isolated Lateralized Overgrowth - Phenotypic Spectrum and Molecular Alterations.Indian journal of pediatrics · 2025Article
- (Epi)genotype-phenotype correlations of Beckwith-Wiedemann syndrome in China.Italian journal of pediatrics · 2025Article
- Renal MRI radiomics in Beckwith-Wiedemann syndrome: a novel imaging approach for genotype identification.Orphanet journal of rare diseases · 2025Article
- Investigation of Uncovering Molecular Mechanisms of Alcohol-Induced Female Infertility-A Rational Approach.Reproductive sciences (Thousand Oaks, Calif.) · 2024Review
- Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach.Orphanet journal of rare diseases · 2024Article
- Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.Histology and histopathology · 2024Review
- A rare case of extremely low birth weight infant with Beckwith-Wiedemann syndrome.International journal of surgery case reports · 2024Article
- Case Studies of Two Classical Imprinting Growth Disorders: Silver-Russell and Beckwith-Wiedemann Syndromes.Journal of pediatric genetics · 2024Article
- Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines.International journal of molecular sciences · 2024Article
- Hallmark discoveries in the biology of Wilms tumour.Nature reviews. Urology · 2024Review
- DIS3L2 Gene Mutation Causes the Perlman Syndrome of Overgrowth and Wilms Tumor Susceptibility.Cureus · 2023Article
- Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm.Archives of gynecology and obstetrics · 2023Observational
18 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 10 institutions in 1 country.
Funding
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Abstract
Beckwith-Wiedemann syndrome (BWS) is characterized by cancer predisposition, overgrowth and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, hypoglycemia, hemihyperplasia, and organomegaly. BWS molecular defects, causing alteration of expression or activity of the genes regulated by two imprinting centres (IC) in the 11p15 chromosomal region, are also heterogeneous. In this paper we define (epi)genotype-phenotype correlations in molecularly confirmed BWS patients. The characteristics of 318 BWS patients with proven molecular defect were compared among the main four molecular subclasses: IC2 loss of methylation (IC2-LoM, n=190), IC1 gain of methylation (IC1-GoM, n=31), chromosome 11p15 paternal uniparental disomy (UPD, n=87), and cyclin-dependent kinase inhibitor 1C gene (CDKN1C) variants (n=10). A characteristic growth pattern was found in each group; neonatal macrosomia was almost constant in IC1-GoM, postnatal overgrowth in IC2-LoM, and hemihyperplasia more common in UPD (P<0.001). Exomphalos was more common in IC2/CDKN1C patients (P<0.001). Renal defects were typical of UPD/IC1 patients, uretheral malformations of IC1-GoM cases (P<0.001). Ear anomalies and nevus flammeus were associated with IC2/CDKN1C genotype (P<0.001). Macroglossia was less common among UPD patients (P<0.001). Wilms' tumor was associated with IC1-GoM or UPD and never observed in IC2-LoM patients (P<0.001). Hepatoblastoma occurred only in UPD cases. Cancer risk was lower in IC2/CDKN1C, intermediate in UPD, and very high in IC1 cases (P=0.009). In conclusion, (epi)genotype-phenotype correlations define four different phenotypic BWS profiles with some degree of clinical overlap. These observations impact clinical care allowing to move toward (epi) genotype-based follow-up and cancer screening.
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