Information

Moleculair diagnostic criteria

For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Cornelia de Lange syndrome.

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

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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.


                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                   

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