ArticleEuropean journal of medical genetics2016
Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.
Article in European journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 64 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
- Innovative models to explore hepatic involvement in Prader-Willi syndrome.Frontiers in endocrinology · 2026Review
- Allelic expression patterns of imprinted and non-imprinted genes in cancer cell lines from multiple histologies.Clinical epigenetics · 2025Article
- An Atypical 15q11.2 Microdeletion Not InvolvingCase reports in genetics · 2023Article
- Increased copy number of imprinted genes in the chromosomal region 20q11-q13.32 is associated with resistance to antitumor agents in cancer cell lines.Clinical epigenetics · 2022Article
- Atypical 15q11.2-q13 Deletions and the Prader-Willi Phenotype.Journal of clinical medicine · 2022Article
- Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.Annals of laboratory medicine · 2022Article
- Do the diverse phenotypes of Prader-Willi syndrome reflect extremes of covariation in typical populations?Frontiers in genetics · 2022Article
- The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique HomozygousGenes · 2021Review
- A report on seven fetal cases associated with 15q11-q13 microdeletion and microduplication.Molecular genetics & genomic medicine · 2021Article
- Transmission of a Novel Imprinting Center Deletion Associated With Prader-Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About.Frontiers in genetics · 2021Article
- Imprinting disorders in humans: a review.Current opinion in pediatrics · 2020Review
- Article
- Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches.Frontiers in pediatrics · 2020Review
- Molecular mechanisms of long noncoding RNAs and their role in disease pathogenesis.Oncotarget · 2018Review
- Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review.American journal of medical genetics. Part A · 2018Article
- Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study.American journal of medical genetics. Part A · 2018Review
- Phylogenetic Analysis of the SNORD116 Locus.Genes · 2017Article
- Circulating angiopoietin-like 8 (ANGPTL8) is a marker of liver steatosis and is negatively regulated by Prader-Willi Syndrome.Scientific reports · 2017Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
We report a 20 year follow up on a Caucasian female, now 26 years of age, with Prader-Willi syndrome (PWS) harboring an atypical 15q11-q13 submicroscopic deletion of 100-200 kb in size first detected in 1996 involving the imprinting center, SNRPN gene and surrounding region. PWS is a rare complex disorder caused by the loss of paternally expressed genes in the 15q11-q13 region. With high resolution chromosomal microarray and methylation - specific MLPA analysis, we updated the genetic findings on our patient and found a 209,819bp deletion including the SNURF-SNRPN gene complex which includes the imprinting center and the SNORD116 region. We compared with four other similarly reported individuals in the literature with atypical submicroscopic deletions within this region but without imprinting center involvement to better characterize the specific genetic lesions causing PWS clinical findings. Clinically, our patient met the diagnostic criteria of PWS including infantile hypotonia, a poor suck with feeding difficulties, global developmental delays and later food foraging, childhood obesity, small hands and skin picking. Small atypical deletions of comparable sizes were seen in the 15q11-q13 region in all five cases and similar behavioral/physical characteristics were found despite an imprinting defect in our patient. These results further support an overlapping critical deletion region involving the non-coding snoRNA SNORD116 in common in the five individuals playing a key role in contributing to the PWS phenotype.
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