Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL

Eur J Med Genet. 2010 Nov-Dec;53(6):378-82. doi: 10.1016/j.ejmg.2010.08.002. Epub 2010 Aug 18.


Cornelia de Lange syndrome (CdLS) is a rare multisystem congenital anomaly disorder characterized by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. Approximately 60-65% of the CdLS subjects have mutation in one of three cohesin proteins, a main regulator of cohesin-associated protein, NIPBL, and two components of the cohesin ring structure SMC1A and SMC3. A prominent role for cohesin is to control chromosome segregation during cell divisions. We have performed MLPA analysis in a group of 11 children with the CdLS but without identifiable point mutations in the NIPBL and SMC1A genes. In a single patient, we identified a large deletion encompassing exons 35 to 47 of the NIPBL gene. Our finding was validated by aCGH and further characterized by long-range PCR and DNA sequencing of the breakpoint junction.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cell Cycle Proteins / genetics*
  • Child
  • Child, Preschool
  • Chromosomal Proteins, Non-Histone / genetics*
  • Cohesins
  • DNA Mutational Analysis
  • De Lange Syndrome / genetics*
  • De Lange Syndrome / metabolism
  • Female
  • Gene Rearrangement
  • Humans
  • Male
  • Nucleic Acid Amplification Techniques
  • Phenotype
  • Proteins / genetics*
  • Young Adult


  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • NIPBL protein, human
  • Proteins