Genetics, the cause of CdLS
In 2004, the news that “the” Cornelia de Lange Syndrome (CdLS) gene had been discovered was very much welcomed, following years of searching and many families donating blood samples towards this cause.
Now, many years later, the picture seems much more confusing. Despite the knowledge of the most recently reported fourth CdLS gene (HDAC8) and another closely related gene (RAD21), the percentage of people with CdLS having detectable changes (mutations) on testing remains under 70 percent, and the diagnosis is still made clinically. You may ask, “How can this be?”
Publications about Genetics
- CoDeLaGe: De SMC1A studie
- Genetic Variation within CdLS
- Correlatie tussen genotype en fenotype in het Cornelia de Lange syndroom
- A Journey, Not a Destination
- An Update on the Genetic Causes of CdLS
- We Already Have a CdLS Diagnosis...Why Follow Up With a Geneticist?
- A Closer Look at Genetics Follow Up: Micah
- A Closer Look at Genetic Testing: Claire
- A Closer Look at HDAC8: Cade
- A Closer Look at NIPBL: Maya
- A Closer Look at RAD21: Baylee
- A Closer Look at SMC1A: Katie
- A Closer Look at SMC3: Kinsley
- Genetic Testing and Your Family
- Gene Therapy
- “Genezing” van het Cornelia de Lange syndroom?
More in depth information about Genetics
(from the international consensus statement)
