ArticleEuropean journal of human genetics : EJHG2019
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 41 citations in OpenAlex.
- Caregiver Meaningful Score Differences and Meaningful Score Regions for the Observer-Reported Communication Ability Measure for Individuals with Angelman Syndrome.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2026Article
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- The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial.Nature medicine · 2025Article
- Lower respiratory rate during sleep in children with angelman syndrome compared to age-matched controls.Orphanet journal of rare diseases · 2025Article
- EndoCompass Project: Research Roadmap for Growth Disorders.Hormone research in paediatrics · 2025Review
- Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies.Frontiers in medicine · 2025Article
- The influence of genotype makeup on the effectiveness of growth hormone therapy in children with Prader-Willi syndrome.BMC pediatrics · 2024Article
- Developmental milestones and daily living skills in individuals with Angelman syndrome.Journal of neurodevelopmental disorders · 2024Article
- Prenatal diagnosis of Silver-Russell syndrome with 8q12 deletion including theFrontiers in genetics · 2024Article
- Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis.Frontiers in genetics · 2024Article
- Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).Journal of neurodevelopmental disorders · 2023Observational
- Imprinting disorders.Nature reviews. Disease primers · 2023Review
- Developing Angelman syndrome-specific clinician-reported and caregiver-reported measures to support holistic, patient-centered drug development.Orphanet journal of rare diseases · 2023Article
- Effects of early recombinant human growth hormone treatment in young Chinese children with Prader-Willi syndrome.Orphanet journal of rare diseases · 2023Article
- Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III.Journal of autism and developmental disorders · 2023Article
- Article
- First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.Clinical epigenetics · 2022Article
- Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders.Molecular diagnosis & therapy · 2022Article
- Fahr syndrome discovered in adulthood revealing a rareClinical case reports · 2022Article
- Epilepsy and Molecular Phenotype Affect the Neurodevelopment of Pediatric Angelman Syndrome Patients in China.Frontiers in psychiatry · 2022Article
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Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
Abstract
Imprinting disorders (ImpDis) represent a small group of rare congenital diseases primarily affecting growth, development, and the hormonal and metabolic systems. The aim of present study was to identify the prevalence of the ImpDis in Estonia, to describe trends in the live birth prevalence of these disorders between 1998 and 2016, and to compare the results with previously published data. We retrospectively reviewed the records of all Estonian patients since 1998 with both molecularly and clinically diagnosed ImpDis. A prospective study was also conducted, in which all patients with clinical suspicion for an ImpDis were molecularly analyzed. Eighty-seven individuals with ImpDis were identified. Twenty-seven (31%) of them had Prader-Willi syndrome (PWS), 15 (17%) had Angelman syndrome (AS), 15 (17%) had Silver-Russell syndrome (SRS), 12 (14%) had Beckwith-Wiedemann syndrome (BWS), 10 (11%) had pseudo- or pseudopseudohypoparathyroidism, four had central precocious puberty, two had Temple syndrome, one had transient neonatal diabetes mellitus, and one had myoclonus-dystonia syndrome. One third of SRS and BWS cases fulfilled the diagnostic criteria for these disorders, but tested negative for genetic abnormalities. Seventy-six individuals were alive as of January 1, 2018, indicating the total prevalence of ImpDis in Estonia is 5.8/100,000 (95% CI 4.6/100,000-7.2/100,000). The minimum live birth prevalence of all ImpDis in Estonia in 2004-2016 was 1/3,462, PWS 1/13,599, AS 1/27,198, BWS 1/21,154, SRS 1/15,866, and PHP/PPHP 1/27,198. Our results are only partially consistent with previously published data. The worldwide prevalence of SRS and GNAS-gene-related ImpDis is likely underestimated and may be at least three times higher than expected.
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