Global InformationZTTK syndrome information
| ZTTK syndrome | |
|---|---|
| Other names | Zhu-Tokita-Takenouchi-Kim syndrome |
ZTTK syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare multisystem disease caused in humans by a genetic mutation of the SON gene. Common symptoms include developmental delay and often light to severe intellectual disability.[1][2]
Characteristic abnormalities include cerebral cortex malformations, vision difficulties, musculoskeletal abnormalities and congenital defects.[1] Individuals with a mutation in the SON gene may not all display these features. However, SON loss of function (LoF) variants appear to cause a clinically distinguished phenotype.[1]
- ^ a b c Kim, Jung-Hyun; Shinde, Deepali N; Reijnders, Margot R.F; Hauser, Natalie S; Belmonte, Rebecca L; Wilson, Gregory R; Bosch, Daniëlle G.M; Bubulya, Paula A; Shashi, Vandana; Petrovski, Slavé; Stone, Joshua K; Park, Eun Young; Veltman, Joris A; Sinnema, Margje; Stumpel, Connie T.R.M; Draaisma, Jos M; Nicolai, Joost; Yntema, Helger G; Lindstrom, Kristin; De Vries, Bert B.A; Jewett, Tamison; Santoro, Stephanie L; Vogt, Julie; Bachman, Kristine K; Seeley, Andrea H; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; Kortüm, Fanny; et al. (2016). "De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome". The American Journal of Human Genetics. 99 (3): 711–719. doi:10.1016/j.ajhg.2016.06.029. PMC 5011044. PMID 27545680.
- ^ "OMIM Entry # 617140 - ZTTK SYNDROME; ZTTKS". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 27 October 2017.