Witteveen–Kolk syndrome explained

Witteveen–Kolk syndrome, also known as WITKOS and 15q24 microdeletion syndrome, is a rare neurodevelopmental disorder characterized by developmental delay/intellectual disability, facial dysmorphisms, and short stature. The syndrome is caused by loss of function of switch‐insensitive 3 transcription regulator family member A (SIN3A).^{[1] [2]} The syndrome was discovered by developmental neuroscientists Josefine S. Witteveen, PhD and Sharon M. Kolk, PhD, in 2016.

Notes and References

1. Witteveen. Josefine S.. Willemsen. Marjolein H.. Dombroski. Thaís C. D.. van Bakel. Nick H. M.. Nillesen. Willy M.. van Hulten. Josephus A.. Jansen. Eric J. R.. Verkaik. Dave. Veenstra-Knol. Hermine E.. van Ravenswaaij-Arts. Conny M. A.. Wassink-Ruiter. Jolien S. Klein. August 2016. Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nature Genetics. 48. 8. 877–887. 10.1038/ng.3619. 1546-1718. 27399968. 12799434. 2066/165654. free.
2. Dongen. Linde C. M. van. Wingbermühle. Ellen. Dingemans. Alexander J. M.. Bos-Roubos. Anja G.. Vermeulen. Karlijn. Pop-Purceleanu. Monica. Kleefstra. Tjitske. Egger. Jos I. M.. 2020. Behavior and cognitive functioning in Witteveen–Kolk syndrome. American Journal of Medical Genetics Part A. en. 182. 10. 2384–2390. 10.1002/ajmg.a.61775. 1552-4833. 7540409. 32783353.