ArticleGenetics in medicine : official journal of the American College of Medical Genetics2012
NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 34 citations in OpenAlex.
- Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.The Journal of clinical investigation · 2015Trial
- Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and anMolecular syndromology · 2025Article
- The NIPBL-gene mutation of a Cornelia de Lange Syndrome patient causes deficits in the hepatocyte differentiation of induced Pluripotent Stem Cells via altered chromatin-accessibility.Cellular and molecular life sciences : CMLS · 2024Article
- Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant.Molecular genetics & genomic medicine · 2024Review
- Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.Frontiers in genetics · 2024Article
- Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.American journal of medical genetics. Part A · 2023Article
- Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.HGG advances · 2022Article
- High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.American journal of human genetics · 2021Article
- Replication stress at microsatellites causes DNA double-strand breaks and break-induced replication.The Journal of biological chemistry · 2020Article
- Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.American journal of medical genetics. Part A · 2020Article
- The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.American journal of human genetics · 2019Article
- Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Cornelia de Lange syndrome in diverse populations.American journal of medical genetics. Part A · 2019Article
- Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.Journal of human genetics · 2018Article
- Behavioral and psychiatric manifestations in Cornelia de Lange syndrome.Current opinion in psychiatry · 2017Review
- Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes.Molecular syndromology · 2016Review
- The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.American journal of medical genetics. Part A · 2015Article
- Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.The Journal of clinical endocrinology and metabolism · 2015Article
- Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
purposeCornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by mental retardation, limb abnormalities, distinctive facial features, and hirsutism. Mutations in three genes involved in sister chromatid cohesion, NIPBL, SMC1A, and SMC3, account for ~55% of CdLS cases. The molecular etiology of a significant fraction of CdLS cases remains unknown. We hypothesized that large genomic rearrangements of cohesin complex subunit genes may play a role in the molecular etiology of this disorder.
methodsCustom high-resolution oligonucleotide array comparative genomic hybridization analyses interrogating candidate cohesin genes and breakpoint junction sequencing of identified genomic variants were performed.
resultsOf the 162 patients with CdLS, for whom mutations in known CdLS genes were previously negative by sequencing, deletions containing NIPBL exons were observed in 7 subjects (~5%). Breakpoint sequences in five patients implicated microhomology-mediated replicative mechanisms-such as serial replication slippage and fork stalling and template switching/microhomology-mediated break-induced replication-as a potential predominant contributor to these copy number variations. Most deletions are predicted to result in haploinsufficiency due to heterozygous loss-of-function mutations; such mutations may result in a more severe CdLS phenotype.
conclusionOur findings suggest a potential clinical utility to testing for copy number variations involving NIPBL when clinically diagnosed CdLS cases are mutation-negative by DNA-sequencing studies.
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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.