ArticleMolecular genetics & genomic medicine2019
Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.
Article in Molecular genetics & genomic medicine, 2019. 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, 22 citations in OpenAlex.
- Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review.International journal of molecular sciences · 2026Review
- Maternal uniparental disomy of chromosome 15 with concurrent paternal non-chromosome 15 marker chromosome: a rare presentation of prader-willi syndrome.Molecular cytogenetics · 2025Article
- First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions.Molecular genetics & genomic medicine · 2023Article
- Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.Orphanet journal of rare diseases · 2022Review
- Genetic conditions of short stature: A review of three classic examples.Frontiers in endocrinology · 2022Review
- A Novel Mutation in the Myosin Binding Protein C Gene in a Prader-Willi Syndrome Pedigree.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics.Frontiers in genetics · 2021Article
- Article
- Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD).International journal of molecular sciences · 2020Review
- Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches.Frontiers in pediatrics · 2020Review
- Article
- Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.Molecular genetics & genomic medicine · 2019Article
- Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome.Frontiers in endocrinology · 2019Review
- Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.Current pediatric reviews · 2019Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundDetailed analysis of imprinting center (IC) defects in individuals with Prader-Willi syndrome (PWS) is not readily available beyond chromosomal microarray (MA) analysis, and such testing is important for a more accurate diagnosis and recurrence risks. This is the first feasibility study of newly developed droplet digital polymerase chain reaction (ddPCR) examining DNA copy number differences in the PWS IC region of those with IC defects.
methodsThe study cohort included 17 individuals without 15q11-q13 deletions or maternal disomy but with IC defects as determined by genotype analysis showing biparental inheritance. Seven sets of parents and two healthy, unrelated controls were also analyzed.
resultsCopy number differences were distinguished by comparing the number of positive droplets detected by IC probes to those from a chromosome 15 reference probe, GABRβ3. The ddPCR findings were compared to results from other methods including MA, and whole-exome sequencing (WES) with 100% concordance. The study also estimated the frequency of IC microdeletions and identified gene variants by WES that may impact phenotypes including CPT2 and NTRK1 genes.
conclusionDroplet digital polymerase chain reaction is a cost-effective method that can be used to confirm the presence of microdeletions in PWS with impact on genetic counseling and recurrence risks for families.
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