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The overall CdLS phenotype can be characterized as a spectrum (Fig. Taken together, this heterogeneity in presentation and causal genes has made it increasingly difficult to determine which combination of characteristics should still be called CdLS 6. Finally, gene variants whose products are considered to function in the cohesin complex were reported in individuals who do not exhibit the classic CdLS phenotype. As another example, plausibly causal variants were found in genes that had been associated previously with developmental disorders but not with CdLS, such as ANKRD11 and NAA10, in individuals with features of CdLS 4, 5. For example, plausibly causal variants have been identified in a confirmed CdLS gene, SMC1A, in individuals who exhibit no features of CdLS but have characteristics resembling Rett syndrome 3.

While molecular investigations have successfully attributed the aetiology of CdLS to genetic variants of structural or regulatory components of the cohesin complex, using genotype as the gold standard for diagnosis has led to problems in clinical studies of CdLS. Over the past decade, genome-wide technologies, which can detect abnormal copy number and/or sequence variation, have emerged as a new first-line test for individuals with clinically significant developmental disorders. Nature Reviews Genetics volume 19, pages 649–666 ( 2018) Cite this article EXPERT CONSENSUS DOCUMENT Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Cornelia farsighted landscape architect dies