ArticleAmerican journal of medical genetics. Part A2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
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Article in American journal of medical genetics. Part A, 2023. 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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25 citing papers in PubMed, 39 citations in OpenAlex.
- Cohesin acts as a transcriptional gatekeeper by restraining pause-release to promote processive elongation.Nature communications · 2026Article
- Unraveling a Rare Diagnosis: Genetically Confirmed Cornelia De Lange Syndrome in an Emirati Female Patient.Cureus · 2026Article
- A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report.Journal of medical case reports · 2026Article
- Article
- Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China.The application of clinical genetics · 2026Article
- Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening.Frontiers in immunology · 2026Article
- A Novel STAG2 Frameshift Variant in Mullegama-Klein-Martinez Syndrome with Complex Conotruncal Heart Defect.Genes · 2025Article
- Non-Classic Cornelia de Lange Syndrome Due toChildren (Basel, Switzerland) · 2025Review
- Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.BMC ophthalmology · 2025Article
- Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.Scientific reports · 2025Article
- Cohesin in 3D: development, differentiation, and disease.Genes & development · 2025Review
- Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis.Molecular genetics & genomic medicine · 2025Article
- Transcription factors form a ternary complex with NIPBL/MAU2 to localize cohesin at enhancers.Nucleic acids research · 2025Article
- Clinical and genetic characteristics associated with dual-positive gene variations.Frontiers in neuroscience · 2025Article
- Article
- Review
- Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.European journal of human genetics : EJHG · 2024Article
- Emerging X-linked genes associated with neurodevelopmental disorders in females.Current opinion in neurobiology · 2024Review
- Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant.Molecular genetics & genomic medicine · 2024Review
- Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.Molecular genetics & genomic medicine · 2024Article
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Authors and funding
97 authors at 20 institutions in 17 countries.
Maninder KaurDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0009-0000-3826-9337
Justin BlairDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Batsal DevkotaIllumina Inc, San Diego, California, USA.
Sierra FortunatoDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Dinah ClarkNatera, Inc., Austin, Texas, USA.
Audrey LawrenceDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Jiwoo KimDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Wonwook DoDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Benjamin SemeoDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Olivia KatzDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Devanshi MehtaDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Nobuko YamamotoDivision of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan.
Emma SchindlerDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0002-3610-7868
Zayd Al RawiDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Nina WallaceDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Jonathan J WildeEmugen Therapeutics, Woburn, Massachusetts, USA.
Jennifer McCallumDepartment of Cancer Biology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Jinglan LiuDepartment of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Dongbin XuHematologics Inc, Seattle, Washington, USA.
Marie JacksonDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Stefan RentasDepartment of Pathology, Duke University School of Medicine, Durham, North Carolina, USA.
Ahmad Abou TayounAl Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates.
Zhang ZheDepartment of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Omar Abdul-RahmanDepartment of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.ORCID 0000-0002-1020-9989
Bill AllenFullerton Genetics Center, Mission Health, Asheville, North Carolina, USA.
Moris A AngulaDepartment of Pediatrics, NYU Langone Hospital-Long Island, Mineola, New York, USA.
Kwame Anyane-YeboaPediatrics, Columbia University Irving Medical Center, New York, New York, USA.ORCID 0000-0002-4977-9719
Jesús ArgenteHospital Infantil Universitario Niño Jesús & Universidad Autónoma de Madrid, Madrid, Spain.ORCID 0000-0001-5826-0276
Pamela H ArnDepartment of Pediatrics, Nemours Children's Specialty Care, Jacksonville, Florida, USA.
Linlea ArmstrongDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Lina Basel-SalmonRabin Medical Center-Beilinson Hospital, Raphael Recanati Genetics Institute, Petach Tikva, Israel.
Gareth BaynamWestern Australian Register of Developmental Anomalies and Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.
Lynne M BirdDepartment of Pediatrics, University of California San Diego, San Diego, California, USA.ORCID 0000-0003-4833-3747
Daniel BrueggerDepartment of Otolaryngology-Head and Neck Surgery, University of Kansas School of Medicine, Kansas City, Kansas, USA.
Gaik-Siew Ch'ngDepartment of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
David ChitayatThe Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
Robin ClarkDepartment of Pediatrics, Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, California, USA.ORCID 0000-0002-7277-4975
Gerald F CoxDivision of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Usha DaveR & D MILS International India, Mumbai, India.
Elfrede DeBaereDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Michael FieldGenetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia.
John M GrahamDivision of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.ORCID 0000-0003-4297-1078
Karen W GrippNemours Children's Health, Wilmington, Delaware, USA.
Robert GreensteinUniversity of Connecticut Health Center, Farmington, Connecticut, USA.
Neerja GuptaDivision of Genetics, Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India.ORCID 0000-0002-7454-5543
Randy HeidenreichDepartment of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.
Jodi HoffmanDepartment of Pediatrics, Boston University School of Medicine, Boston, Massachusetts, USA.
Robert J HopkinDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Kenneth L JonesDivision of Dysmorphology & Teratology, Department of Pediatrics, University of California San Diego School of Medicine, San Diego, California, USA.
Marilyn C JonesDepartment of Pediatrics, University of California San Diego, San Diego, California, USA.ORCID 0000-0002-4512-2015
Ariana KariminejadKariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.ORCID 0000-0002-8467-4728
Jillene KoganDivision of Genetics, Advocate Children's Hospital, Park Ridge, Illinois, USA.
Baiba LaceChildren's Clinical University Hospital, Riga, Latvia.
Julian LeroyDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Sally Ann LynchDepartment of Clinical Genetics, Children's Health Ireland, Dublin, Ireland.
Marie McDonaldDuke University Medical Center, Durham, North Carolina, USA.
Kirsten MeagherDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Nancy MendelsohnComplex Health Solutions, United Healthcare, Minneapolis, Minnesota, USA.
Ieva MiculeChildren's Clinical University Hospital, Riga, Latvia.
John MoeschlerDepartment of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, New Hampshire, USA.
Sheela NampoothiriDepartment of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India.ORCID 0000-0002-9575-0722
Kaoru OhashiDepartment of Medical Genetics, BC Women's Hospital, Vancouver, British Columbia, Canada.
Cynthia M PowellDivision of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Subhadra RamanathanDepartment of Pediatrics, Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, California, USA.
Salmo RaskinGenetika-Centro de aconselhamento e laboratório de genética, Curitiba, Brazil.
Elizabeth RoederDepartment of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, Texas, USA.
Marlene RioDepartment of Genetics, Hôpital Necker-Enfants Malades, Paris, France.
Alan F RopeGenome Medical, South San Francisco, California, USA.
Karan SanghaDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Angela E ScheuerleDivision of Genetics and Metabolism, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Adele SchneiderDepartment of Pediatrics and Oculogenetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA.
Stavit ShalevRappaport Faculty of Medicine, Technion, The Genetics Institute, Emek Medical Center, Afula, Haifa, Israel.
Victoria SiuLondon Health Sciences Centre, London, Ontario, Canada.
Rosemarie SmithDivision of Genetics, Department of Pediatrics, Maine Medical Center, Portland, Maine, USA.
Cathy StevensDepartment of Pediatrics, University of Tennessee College of Medicine, T.C. Thompson Children's Hospital, Chattanooga, Tennessee, USA.
Tinatin TkemaladzeDepartment of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.
John ToimieClinical Genetics Service, Laboratory Medicine Building, Southern General Hospital, Glasgow, UK.
Helga TorielloDepartment of Pediatrics and Human Development, Michigan State University, East Lansing, Michigan, USA.
Anne TurnerCentre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.
Patricia G WheelerDivision of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA.
Susan M WhiteVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.
Terri YoungDepartment of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, Wisconsin, USA.
Kathleen M LoomesDivision of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Mary PipanDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Ann Tokay HarringtonCenter for Rehabilitation, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Elaine ZackaiDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Ramakrishnan RajagopalanDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Laura ConlinDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Matthew A DeardorffDepartment of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.
Deborah McEldrewDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Juan PieLaboratorio de Genética Clínica y Genómica Funcional, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain.
Feliciano RamosUnidad de Genética Clínica, Servicio de Pediatría, Hospital Clínico Universitario "Lozano Blesa", Zaragoza, Spain.
Antonio MusioIstituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Pisa.ORCID 0000-0001-7701-6543
Antonie D KlineGreater Baltimore Medical Centre, Harvey Institute of Human Genetics, Baltimore, Maryland, USA.ORCID 0000-0002-7863-2994
Kosuke IzumiDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Sarah E RaibleDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Ian D KrantzDivision of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Children's Hospital of Philadelphia · USUniversity of British Columbia · CAArnold Palmer Hospital for Children · USChildren's Clinical University Hospital · LVGhent University Hospital · BELoma Linda University Medical Center · USNemours Children's Health System · USUniversidad de Zaragoza · ESUniversity of California San Diego · USAdvocate Children's Hospital · USAl Jalila Foundation · AEAll India Institute of Medical Sciences · INAmrita Institute of Medical Sciences and Research Centre · INBarricaid (United States) · USBaylor College of Medicine · USB.C. Women's Hospital & Health Centre · CABoston Children's Hospital · USBoston University · USCedars-Sinai Medical Center · USChildren's Health Ireland at Crumlin · IE
Funding
VERTEBRATE ANIMAL MODELS OF CORNELIA DE LANGE SYNDROMEP01HD052860 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI KRANTZ, IAN D. · 2006 to 2015
$11.2MMolecular Analysis of the Cornelia de Lange SyndromeR01HD039323 · NICHD · CHILDRENS HOSPITAL OF PHILADELPHIA · PI KRANTZ, IAN D · 2002 to 2005
$1.3MThe Cohesin Complex and Cornelia de Lange SyndromeK08HD055488 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI DEARDORFF, MATTHEW A · 2007 to 2011
$685kDefining Informative Loci to Enable Mechanistic Insight and Treatment of ChromatinopathiesR21HD101977 · NICHD · CHILDREN'S HOSPITAL OF LOS ANGELES · PI DEARDORFF, MATTHEW A · 2020 to 2021
$466kGenomic Diagnostics in Cornelia de Lange Syndrome, Related Diagnosis and Structural Birth DefectsR03HD099530 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI KRANTZ, IAN D. · 2019 to 2020
$352kNICHD NIH HHS K08 HD055488NICHD NIH HHS P01 HD052860NICHD NIH HHS R01 HD039323NICHD NIH HHS R03 HD099530NICHD NIH HHS R21 HD101977
Abstract
Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (>60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or "DTRs"). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype-phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population.
Indexed as
De Lange SyndromeNuclear ProteinsBromodomain Containing ProteinsCell Cycle ProteinsGenetic Association StudiesGenomicsHistone DeacetylasesHumansMutationPhenotypeRepressor ProteinsTranscriptional Elongation FactorsTranscription FactorsAFF4 protein, humanBRD4 protein, humanBromodomain Containing ProteinsCell Cycle ProteinsHDAC8 protein, humanHistone DeacetylasesNIPBL protein, humanNuclear ProteinsRepressor ProteinsTranscriptional Elongation FactorsTranscription FactorsCdLScohesinCornelia de Lange SyndromegenomeHDAC8NIPBLRAD21SMC1ASMC3transcription
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