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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
Open accessAbstract
Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by growth and cognitive retardation; abnormalities of the upper limbs; gastroesophageal dysfunction; cardiac, ophthalmologic and genitourinary anomalies; hirsutism; and characteristic facial features. Genital anomalies, pyloric stenosis, congenital diaphragmatic hernias, cardiac septal defects, hearing loss and autistic and self-injurious tendencies also frequently occur. Prevalence is estimated to be as high as 1 in 10,000 (ref. 4). We carried out genome-wide linkage exclusion analysis in 12 families with CdLS and identified four candidate regions, of which chromosome 5p13.1 gave the highest multipoint lod score of 2.7. This information, together with the previous identification of a child with CdLS with a de novo t(5;13)(p13.1;q12.1) translocation, allowed delineation of a 1.1-Mb critical region on chromosome 5 for the gene mutated in CdLS. We identified mutations in one gene in this region, which we named NIPBL, in four sporadic and two familial cases of CdLS. We characterized the genomic structure of NIPBL and found that it is widely expressed in fetal and adult tissues. The fly homolog of NIPBL, Nipped-B, facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster.
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“NIPBL, a gene associated with Cornelia de Lange Syndrome (80)”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [80]
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Metadata
- Authors
- Krantz, I. D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L. A., Yaeger, D., Jukofsky, L., Wasserman, N., Bottani, A., Morris, C. A., Nowaczyk, M. J. M., Toriello, H., Bamshad, M. J., Carey, J. C., Rappaport, E., Kawauchi, S., Lander, A. D., Calof, A. L., Li, H.-H., Devoto, M., & Jackson, L. G.
- Affiliations
- Children's Hospital of Philadelphia (US)
- University Hospital of Geneva (CH)
- University of Nevada, Las Vegas (US)
- Michigan State University (US)
- University of Utah (US)
- University of California, Irvine (US)
- University of Genoa (IT)
- Corresponding author
- Krantz, Ian D
- ORCID
- Venue
- Nature Genetics
- Published
- 2004-05-16
- Volume
- 36
- Issue
- 6
- Pages
- 631-635
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC4902017
- OpenAlex
- W2059171091
- Cited by
- 713
- References
- 14
- Citations by year
- 2026: 11 · 2025: 22 · 2024: 17 · 2023: 14 · 2022: 29 · 2021: 21 · 2020: 26 · 2019: 31 · 2018: 22 · 2017: 35 · 2016: 33 · 2015: 39 · 2014: 33 · 2013: 52 · 2012: 47
- FWCI
- 16.78
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Funders
- Cornelia de Lange Syndrome Foundation
- Children's Hospital of Philadelphia
- National Institutes of Health
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD039323)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- Cornelia de Lange syndrome, NIPBL, candidate gene mapping, de novo translocation, critical region, genetic mutations, enhancer-promoter interactions, Notch signaling, developmental disorders, growth retardation, limb malformations
- MeSH terms
- Animals, Chromosomes, Human, Pair 5, De Lange Syndrome, DNA-Binding Proteins, Drosophila melanogaster, Female, Humans, Genetic Linkage, Male, Molecular Sequence Data, Mutation, Species Specificity, Genes, Insect, In Situ Hybridization, Fluorescence, Drosophila Proteins, Mice
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