Classic view of this page
Cornelia de Lange Syndrome
Research Genetic test
Help
offered by
CdLS Research Laboratory
GTR Test Accession: Help GTR000255635.3
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2021-07-25
View version history
Last annual review date for the lab: 2021-07-25 Past due LinkOut
At a Glance
Conditions (1): Help
De Lange syndrome
Genes (1): Help
NIPBL (5p13.2)
Study description: Help
Research enrollment is offered to individuals with CdLS or a …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individual must have a suspected diagnosis of CdLS or a …
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: NGS; ...
Study Description
Name: Help
Molecular Analysis of Cornelia de Lange Syndrome and Related Conditions
Protocol number: Help
IRB# 98-001439
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Research enrollment is offered to individuals with CdLS or a CdLS-like phenotype. We request that individuals have screening for at least NIPBL, SMC1A, SMC3, RAD21 and HDAC8 prior to enrollment. We are particularly interested in individuals who have had clinical testing for the known CdLS genes (NIPBL, SMC1A, SMC3, RAD21, … View more
View citations (3)
  • Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet. 2004;36(6):631-5. doi:10.1038/ng1364. Epub 2004 May 16. PMID: 15146186.
  • Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet. 2004;75(4):610-23. doi:10.1086/424698. Epub 2004 Aug 18. PMID: 15318302.
  • Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 2007;80(3):485-94. doi:10.1086/511888. Epub 2007 Jan 17. PMID: 17273969.
Offered by: Help
CdLS Research Laboratory
Person responsible for the study: Help
Ian Krantz, MD, Lab Director
Study contact: Help
Ian Krantz, MD, Lab Director
Research contact policy: Help
Laboratory welcomes contact from patients/families interested in participating in a research study for this condition. Referrals from clinicians are also welcomed.
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individual must have a suspected diagnosis of CdLS or a related condition
Recruiting sites: Help
CHOP
Consent form: Help
Not provided
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
NGS
Sequence analysis of the entire coding region
NGS
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.