Letter/Communication
Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B
Nature genetics, v 36(6), pp 631-635
Jun 2004
PMID: 15146186
Featured in Collection : UN Sustainable Development Goals @ Drexel
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.
Metrics
Details
- Title
- Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B
- Creators
- Ian D Krantz - Children's Hospital of PhiladelphiaJennifer McCallum - Children's Hospital of PhiladelphiaCheryl DeScipio - Children's Hospital of PhiladelphiaManinder Kaur - Children's Hospital of PhiladelphiaLynette A Gillis - Children's Hospital of PhiladelphiaDinah Yaeger - Children's Hospital of PhiladelphiaLori Jukofsky - Children's Hospital of PhiladelphiaNora Wasserman - Children's Hospital of PhiladelphiaArmand Bottani - University Hospital of GenevaColleen A Morris - University of Nevada, Reno School of MedicineMalgorzata J M Nowaczyk - McMaster University Medical CentreHelga Toriello - Michigan State UniversityMichael J Bamshad - University of UtahJohn C Carey - University of UtahEric Rappaport - Children's Hospital of PhiladelphiaShimako Kawauchi - University of California, IrvineArthur D Lander - University of California, IrvineAnne L Calof - University of California, IrvineHui-hua Li - Nemours Children's Clinic (United States, Wilmington)Marcella Devoto - Nemours Children's Clinic (United States, Wilmington)Laird G Jackson - Drexel University
- Publication Details
- Nature genetics, v 36(6), pp 631-635
- Publisher
- Springer Nature
- Number of pages
- 5
- Resource Type
- Letter/Communication
- Language
- English
- Academic Unit
- College of Medicine
- Web of Science ID
- WOS:000221763700022
- Scopus ID
- 2-s2.0-2642542322
- Other Identifier
- 991019168361604721
UN Sustainable Development Goals (SDGs)
This publication has contributed to the advancement of the following goals:
InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Genetics & Heredity