ArticleJournal of medical genetics2005
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
Article in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 102 citations in OpenAlex.
- Pooled it
- Sotos Syndrome and Nephrocalcinosis a Rare But Possible Association Due to Impact on Contiguous GenesJournal of clinical research in pediatric endocrinology · 2025Article
- Impact and characterization of serial structural variations across humans and great apes.Nature communications · 2024Article
- Neuropsychiatric Aspects of Sotos Syndrome: Explorative Review Building Multidisciplinary Bridges in Clinical Practice.Journal of clinical medicine · 2024Review
- Sleep disturbances and behavioral symptoms in pediatric Sotos syndrome.Frontiers in neurology · 2024Article
- Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.Frontiers in pediatrics · 2023Article
- Central Precocious Puberty in an Infant with Sotos Syndrome and Response to TreatmentJournal of clinical research in pediatric endocrinology · 2022Article
- DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications.International journal of molecular sciences · 2022Review
- Phenotype and genotype in a Taiwanese girl with Sotos Syndrome.BioMedicine · 2022Article
- Compendium of causative genes and their encoded proteins for common monogenic disorders.Protein science : a publication of the Protein Society · 2022Article
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays.Scientific reports · 2021Article
- The Role of Nuclear Receptor-Binding SET Domain Family Histone Lysine Methyltransferases in Cancer.Cold Spring Harbor perspectives in medicine · 2017Review
- A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.Scientific reports · 2017Article
- Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions.The Journal of clinical endocrinology and metabolism · 2014Article
- The genetics of microdeletion and microduplication syndromes: an update.Annual review of genomics and human genetics · 2014Review
- The NSD1 and EZH2 overgrowth genes, similarities and differences.American journal of medical genetics. Part C, Seminars in medical genetics · 2013Article
- Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.Molecular syndromology · 2013Article
- Generation of the Sotos syndrome deletion in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2012Article
- Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.Pediatric nephrology (Berlin, Germany) · 2011Article
Corrections and comments
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Authors and funding
26 authors at 17 institutions in 6 countries.
Funding
Abstract
backgroundSotos syndrome is characterised by learning difficulties, overgrowth, and a typical facial appearance. Microdeletions at 5q35.3, encompassing NSD1, are responsible for approximately 10% of non-Japanese cases of Sotos. In contrast, a recurrent approximately 2 Mb microdeletion has been reported as responsible for approximately 50% of Japanese cases of Sotos.
methodsWe screened 471 cases for NSD1 mutations and deletions and identified 23 with 5q35 microdeletions. We investigated the deletion size, parent of origin, and mechanism of generation in these and a further 10 cases identified from published reports. We used "in silico" analyses to investigate whether repetitive elements that could generate microdeletions flank NSD1.
resultsThree repetitive elements flanking NSD1, designated REPcen, REPmid, and REPtel, were identified. Up to 18 cases may have the same sized deletion, but at least eight unique deletion sizes were identified, ranging from 0.4 to 5 Mb. In most instances, the microdeletion arose through interchromosomal rearrangements of the paternally inherited chromosome.
conclusionsFrequency, size, and mechanism of generation of 5q35 microdeletions differ between Japanese and non-Japanese cases of Sotos. Our microdeletions were identified from a large case series with a broad range of phenotypes, suggesting that sample selection variability is unlikely as a sole explanation for these differences and that variation in genomic architecture might be a contributory factor. Non-allelic homologous recombination between REPcen and REPtel may have generated up to 18 microdeletion cases in our series. However, at least 15 cannot be mediated by these repeats, including at least seven deletions of different sizes, implicating multiple mechanisms in the generation of 5q35 microdeletions.
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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.