How is ZTTK Syndrome Diagnosed?

ZTTK Syndrome is primarily diagnosed through Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS). ZTTK Syndrome is caused by heterozygous loss-of-function mutations in the SON gene, which means one out of two copies of the SON gene becomes non-functional due to genome sequence mutations or deletion. In most cases of ZTTK Syndrome, SON mutations are “de novo”, which means that the mutation is new to the child’s genome and is not inherited from either parent. It is unclear at this time why de novo mutations, such as in the case of ZTTK Syndrome, occur in patients. If a patient is suspected to have ZTTK Syndrome, they should have WES or WGS completed to look for any sequence variations in the SON gene that potentially cause SON loss-of-function to confirm diagnosis.

An Info-graphic on ZTTK Syndrome Inheritance from Rare Connect