ZTTK syndrome

Definition:

ZTTK syndrome is an intellectual disability syndrome characterized by intellectual disability and/or developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. Several studies have reported that deleterious variants in SON gene are associated with this disease.

References:

[1]. Jung-Hyun Kim, et al. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet. 2016 Sep 1;99(3):711-719. [Content Brief]

[2]. Mari J Tokita, et al. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 Sep 1;99(3):720-727. [Content Brief]

[3]. Toshiki Takenouchi, et al. Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype. Am J Med Genet A. 2016 Oct;170(10):2587-90. [Content Brief]

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