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"Redefining" of the typical CDK13-related disorder symptoms as more research is conducted worldwide

by Ekaterina Fields

While Wikipedia and many websites on CDK13-related disorder continue to list its symptoms from when the disorder was first being described, albeit inaccurately, - geneticists worldwide are continuously working hard to map this disorder and facilitate its diagnosis.


The previous definition of the CDK13 disorder being "characterised" by heart defects has been long dismissed, following the research by the Japanese scientists Tomoko Uehara, Toshiki Takenouchi, Rika Kosaki, Kenji Kurosawa, Seiji Mizuno, and Kenjiro Kosaki.

Their conclusion was published in the European Journal of Medical Genetics in May 2018.


The article below, available through the Science Direct website, calls for new definitions. Instead of cardio defects, the researchers suggest that "nasal features" and wide-shaped or peg-shaped teeth should be considered by doctors and even be used as tell-tale signs of the CDK13-related genetic disorder. The researchers also suggest that CDK13-related disorder may be a "clinically recognisable syndrome", meaning that one can see it. Parents of children with the CDK13-related disorder have long noticed just how similar children with the CDK13 genetic mutation look.


Can you tell by the way a child looks that they may have the CDK13-related disorder?


Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects


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