» What causes Cornelia de Lange Syndrome

Other genes

Changes in several other genes associated with a phenotype of the CdLS spectrum have also been found. Individuals with changes to these genes show a small number of clinical features seen in CdLS.

  • Changes in the gene EP300 have been found in individuals with some features suggestive of CdLS (44).
  • Changes in the gene AFF4 have been found in several individuals with CHOPS syndrome. “CHOPS” stands for cognitive impairment (e.g. problems with memory, communication and thinking), coarse facial features, heart defects, obesity, pulmonary involvement, short stature and skeletal dysplasia (disorder that affects bones/joints and hinders growth). CHOPS syndrome includes features which overlap with CdLS (45).
  • Changes in the gene NAA10 have been found in some individuals with some resemblance to CdLS that is limited to the region around the eyes (5).
  • Changes in the gene TAF6 have been found in two families with children who showed features that overlap with CdLS (4).

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