Cited by 713Genomics and Rare DiseasesGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

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Krantz, Ian D, McCallum, Jennifer, DeScipio, Cheryl, Kaur, Maninder, Gillis, Lynette A, Yaeger, Dinah, Jukofsky, Lori, Wasserman, Nora, Bottani, Armand, Morris, Colleen A, Nowaczyk, Malgorzata J M, Toriello, Helga, Bamshad, Michael J, Carey, John C, Rappaport, Eric, Kawauchi, Shimako, Lander, Arthur D, Calof, Anne L, Li, Hui-hua, Devoto, Marcella, Jackson, Laird G·2004·Nature Genetics

DOI 10.1038/ng1364PMC PMC4902017

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Abstract

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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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: Krantz, Ian D
Kaur, Maninder
Gillis, Lynette A
Jukofsky, Lori
Bottani, Armand
Morris, Colleen A
Toriello, Helga
Bamshad, Michael J
Carey, John C
Kawauchi, Shimako
Lander, Arthur D
Calof, Anne L
Devoto, Marcella
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2004-05-16
Volume: 36
Issue: 6
Pages: 631-635
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng1364
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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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

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