This website provides information on patients with mutations in the SON gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the SON gene, also referred to as ZTTK-syndrome, is a multisystem disorder characterized by developmental delay and intellectual disability, brain malformations, epilepsy and other neurological problems, hearing problems, vision problems, musculoskeletal abnormalities, feeding difficulties, short stature, craniosynostosis, facial dysmorphisms, congenital abnormalities such as heart defects, gastro-intestinal and urogenital malformations. Notably, not all individuals with a mutation in the SON gene have these features. However, SON loss-of-function variants do appear to cause a clinically recognizable phenotype.
The SON gene is increasingly recognized as a master regulator of neurodevelopment. It is involved in RNA processing of genes critical for neuronal migration, cortex organization and metabolism.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the SON gene.
Lisenka Vissers, PhD, Radboudumc, Nijmegen, The Netherlands, Lisenka.Vissers@radboudumc.nl
John Carey, MD, PhD, University of Utah Health, Salt Lake City, UT, USA, John.Carey@hsc.utah.edu
Eun-Young Erin Ahn, PhD, University of Alabama at Birmingham, Birmingham, AL, USA, firstname.lastname@example.org