ArticleAmerican journal of human genetics2010
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
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Who cites it
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 98 citations in OpenAlex.
- Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.Expert reviews in molecular medicine · 2025Pooled it
- DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.European journal of human genetics : EJHG · 2026Article
- Gene Dosage Sensitivity and Human Genetic Diseases.Journal of inherited metabolic disease · 2025Review
- Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).Annals of neurology · 2024Article
- Article
- Does the Potocki-Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review.Journal of personalized medicine · 2023Article
- Diagnosis and clinical presentation of two individuals with a rareBMJ case reports · 2022Article
- A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.European journal of human genetics : EJHG · 2022Article
- Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p.Clinical case reports · 2022Article
- Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.American journal of medical genetics. Part A · 2020Article
- Sleep as a translationally-relevant endpoint in studies of autism spectrum disorder (ASD).Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2020Review
- Objective measures of sleep disturbances in children with Potocki-Lupski syndrome.American journal of medical genetics. Part A · 2019Article
- De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.Genome medicine · 2019Article
- Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith-Magenis syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- A New Patient with Potocki-Lupski Syndrome: A Literature Review.Journal of pediatric genetics · 2018Article
- Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion.Behavioral and brain functions : BBF · 2018Article
- The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.Journal of neurodevelopmental disorders · 2018Article
- Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.Journal of human genetics · 2017Article
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Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
Abstract
Nonallelic homologous recombination (NAHR) can mediate recurrent rearrangements in the human genome and cause genomic disorders. Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are genomic disorders associated with a 3.7 Mb deletion and its reciprocal duplication in 17p11.2, respectively. In addition to these common recurrent rearrangements, an uncommon recurrent 5 Mb SMS-associated deletion has been identified. However, its reciprocal duplication predicted by the NAHR mechanism had not been identified. Here we report the molecular assays on 74 subjects with PTLS-associated duplications, 35 of whom are newly investigated. By both oligonucleotide-based comparative genomic hybridization and recombination hot spot analyses, we identified two cases of the predicted 5 Mb uncommon recurrent PTLS-associated duplication. Interestingly, the crossovers occur in proximity to a recently delineated allelic homologous recombination (AHR) hot spot-associated sequence motif, further documenting the common hot spot features shared between NAHR and AHR. An additional eight subjects with nonrecurrent PTLS duplications were identified. The smallest region of overlap (SRO) for all of the 74 PTLS duplications examined is narrowed to a 125 kb interval containing only RAI1, a gene recently further implicated in autism. Sequence complexities consistent with DNA replication-based mechanisms were identified in four of eight (50%) newly identified nonrecurrent PTLS duplications. Our findings of the uncommon recurrent PTLS-associated duplication at a relative prevalence reflecting the de novo mutation rate and the distribution of 17p11.2 duplication types in PTLS reveal insights into both the contributions of new mutations and the different underlying mechanisms that generate genomic rearrangements causing genomic disorders.
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