Moleculair diagnostic criteria
The genetic causes of CdLS are complex and research to fully understand all the genetic causes is still ongoing. The genetic make-up of a child cannot be changed after conception.
The CdLS spectrum has been associated with a change (mutation) in genetic material. Usually, CdLS is caused by a change in one of seven genes. Genes are individual genetic instructions in DNA that make us who we are. The seven genes associated with CdLS are: NIPBL, SMC1A, SMC3, RAD21, BRD4, HDAC8 and ANKRD11. A change in one of these genes affects what is known as the cohesin protein complex.
Recommendation(s)
Moleculair diagnostic criteria
R4
Classic CdLS is usually caused by variants in NIPBL; however, variants in one of six other genes – SMC1A, SMC3, RAD21, BRD4, HDAC8 or ANKRD11/ – should also be considered, as they may lead to a similar phenotype.
Our publications
What causes Cornelia de Lange Syndrome
An Update on the Genetic Causes of CdLS
Genetics, the cause of CdLS
Genetic Testing
We Already Have a CdLS Diagnosis...Why Follow Up With a Geneticist?
“Influencing” Cornelia de Lange Syndrome?
A Journey, Not a Destination
What causes CdLS?
Genotype-Phenotype Correlations in Cornelia de Lange Syndrome
Gene Therapy
Different flavours of cohesin complexes
CdLS Foundation (USA) Position Statement on Research
Uitleg over de verschillende vormen van Cornelia de Lange syndroom
THE GENETICS OF CdLS
Genetic Variation within CdLS
