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
- 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.
- 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.