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, eight 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
- Genotype-Phenotype Correlations in Cornelia de Lange Syndrome
- A Journey, Not a Destination
- An Update on the Genetic Causes of CdLS
- alreadyDiagnosis
- clGeneticsFollowUp
- clGeneticsTesting
- clHDAC8Cade
- clNIPBLMaya
- clRAD21Baylee
- A Closer Look at SMC1A: Katie
- clSMC3Kinsley
- geneticTestingandFamily
- Gene Therapy
- “Influencing” Cornelia de Lange Syndrome?
- whyTestGenetics
More in depth information about Genetics
(from the international consensus statement)