Most complete dataset of how ZTTK presents across 52 patients

Dingemans et. al.: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

Note: It is possible we will find more mild ZTTK phenotypes going forward, since access to whole exome/genome sequencing is still gaining traction

ZTTK discovery

ZTTK is named after 4 individuals who all published papers contributing to the discovery contemporaneously.

Zhu et. al.: Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Tokita et. al.: De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Takenouchi: Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype

Kim et. al.: De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

• Dr. Ahn led this one! Jung-Hyun Kim was a postdoctoral researcher in Dr. Ahn’s lab at the time.

Select clinically/scientifically interesting papers:

Wolf et. al.: The SON RNA splicing factor is required for intracellular trafficking structures that promote centriole assembly and ciliogenesis

• Would be interesting to explore ZTTK syndrome in relation to other ciliopathies

Halliday et.al.: Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome

• Would be interesting to expand the dataset of ZTTK MRIs reviewed concurrently

Vukadin et. al.: A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis

• It will be interesting to learn what more we can find out about human ZTTK from ZTTK in mice