ArticleClinical epigenetics2022
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Article in Clinical epigenetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 33 citations in OpenAlex.
- Diagnosis and management of Silver-Russell syndrome: second international consensus statement.Nature reviews. Endocrinology · 2026Review
- Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study).Prenatal diagnosis · 2026Article
- Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype Correlation.Clinical genetics · 2026Review
- Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.Clinical epigenetics · 2025Article
- Congenital Imprinting Diseases: Aetiology, Pre- and Perinatal Manifestations, Diagnosis and Care of Affected Families and Pregnancies.Geburtshilfe und Frauenheilkunde · 2025Article
- Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances.Clinical epigenetics · 2025Article
- Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype.Clinical epigenetics · 2025Article
- Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.Clinical genetics · 2025Article
- Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes.The Journal of molecular diagnostics : JMD · 2025Article
- Prognostic importance of direct assignment of parent of origin via long-read genome and epigenome sequencing in retinoblastoma.JCI insight · 2024Article
- Long-term Follow-up of a Late Diagnosed Patient with Temple SyndromeJournal of clinical research in pediatric endocrinology · 2024Article
- Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.Clinical epigenetics · 2024Article
- Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.Clinical epigenetics · 2024Review
- Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening.Archives of endocrinology and metabolism · 2024Article
- Review
- Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.Molecular cytogenetics · 2024Article
- Long read sequencing on its way to the routine diagnostics of genetic diseases.Frontiers in genetics · 2024Review
- Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis.Frontiers in genetics · 2024Article
- First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions.Molecular genetics & genomic medicine · 2023Article
- Bovine Serum Albumin Molecularly Imprinted Electrochemical Sensors Modified by Carboxylated Multi-Walled Carbon Nanotubes/CaAlg Hydrogels.Gels (Basel, Switzerland) · 2023Article
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Authors and funding
29 authors at 20 institutions in 8 countries.
Funding
Abstract
backgroundImprinting disorders, which affect growth, development, metabolism and neoplasia risk, are caused by genetic or epigenetic changes to genes that are expressed from only one parental allele. Disease may result from changes in coding sequences, copy number changes, uniparental disomy or imprinting defects. Some imprinting disorders are clinically heterogeneous, some are associated with more than one imprinted locus, and some patients have alterations affecting multiple loci. Most imprinting disorders are diagnosed by stepwise analysis of gene dosage and methylation of single loci, but some laboratories assay a panel of loci associated with different imprinting disorders. We looked into the experience of several laboratories using single-locus and/or multi-locus diagnostic testing to explore how different testing strategies affect diagnostic outcomes and whether multi-locus testing has the potential to increase the diagnostic efficiency or reveal unforeseen diagnoses.
resultsWe collected data from 11 laboratories in seven countries, involving 16,364 individuals and eight imprinting disorders. Among the 4721 individuals tested for the growth restriction disorder Silver-Russell syndrome, 731 had changes on chromosomes 7 and 11 classically associated with the disorder, but 115 had unexpected diagnoses that involved atypical molecular changes, imprinted loci on chromosomes other than 7 or 11 or multi-locus imprinting disorder. In a similar way, the molecular changes detected in Beckwith-Wiedemann syndrome and other imprinting disorders depended on the testing strategies employed by the different laboratories.
conclusionsBased on our findings, we discuss how multi-locus testing might optimise diagnosis for patients with classical and less familiar clinical imprinting disorders. Additionally, our compiled data reflect the daily life experiences of diagnostic laboratories, with a lower diagnostic yield than in clinically well-characterised cohorts, and illustrate the need for systematising clinical and molecular data.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.