Information

What causes CdLS?


What causes CdLS?
Researches have identified genes that, wen altered, cause CdLS. Please see the genetic information for more details about these discoveries.
Genetic Information
In 2004, researchers at The Children’s Hospital of Philadelphia and the University of Newcastle upon Tyne, identified the location of genes that causes Cornelia de Lange Syndrome, or CdLS, when it is mutated or changed.

In the journal 'Nature Review Genetics', the latest insights on, among other things, the Genetics of CdLS by an international group of experts (a.o. Dr Frank Kaiser) were published in July 2018.

The genetic causes of CdLS are complex and research to understand all the genetic causes is ongoing. A child's DNA profile cannot be changed after conception.

The CdLS spectrum is associated with a change (mutation) in the genetic material. Usually, CdLS is caused by a change in one of seven genes. Genes are individual genetic instructions in the DNA that make us who we are. The seven genes associated with CdLS are: NIPBL, SMC1A, SMC3, RAD21, BRD4, HDAC8 and ANKRD11

Why it is important to have found the CdLS genes

  • To confirm the diagnosis
  • To understand the diagnosis of CdLS, improve existing therapies, and design new medical therapies
  • To understand the role these gene changes play in development
  • To offer reassurance, through genetic testing, that other family members are not affected
  • To provide accurate information and counseling resources for future pregnancies
  • To generate broad interest about the syndrome in the medical/scientific research community
Find other pages that share the same topic as this page Moleculair diagnostic criteria13 Moleculair diagnostic criteria2

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