About KPTN mutations

KPTN genetic mutation can be a complex topic. This section answers key questions to help develop your understanding.

What is KPTN?

KPTN is a protein that plays a part in directing cell growth. KPTN is the acronym for the Kaptin Actin binding protein, which is part of the KICSTOR protein complex, which is part of the mTOR pathway that helps direct cell growth. The name “KPTN” can refer to either the protein itself, or to the gene that encodes the design for the protein and serves as the blueprint for its production. (source) (source

What is a KPTN genetic mutation?

Genetic mutations take place when a copy of DNA does not match the original. KPTN genetic mutations are inherited mutations that occurred long ago and have been passed down over generations. In most carriers, the mutation is passed down as a recessive gene and does not impact the carrier’s KPTN protein design. When two parents each carry a recessive gene, there is a 25% chance that their child will inherit both recessive KPTN genes, resulting in a dominant mutated KPTN gene that produces a KPTN protein with an unexpected design. 

What are the health impacts of KPTN mutation?

The health impacts vary across mutations and individuals, and two individuals with the same mutation may experience different impacts. KPTN patients typically present with a wide range of initial diagnoses that may include epilepsy, autism, developmental delay, macroencephaly, and/or anxiety. 

What is the best medical treatment for KPTN mutations?

There is no known treatment for this disorder. Currently management is largely supportive, including physiotherapy and speech therapy to help with delay in development. Management of seizures is important with good seizure control, as this is an important cause of morbidity and mortality in KPTN-related syndrome, although there is currently no specific guidance on antiepileptic management. Promising research is taking place on the mTOR pathway, which may provide opportunities for treatment in the future. 

How prevalent are KPTN mutations?

This is a very rare condition, with approximately 50 individuals diagnosed worldwide across all KPTN mutations. This count will continue to grow as genetic testing becomes more prevalent. Researchers have identified a number of different mutations to the KPTN gene: see the researcher and practitioner corner for links to specific research on different mutations. 

What research is taking place right now that could help?

As KPTN-related syndrome has been linked to hyperactivation of the mTOR pathway, it is hoped that mTOR inhibitors, for example rapamycin, that have been effective in other conditions like tuberose sclerosis, that arise from the hyperactivation of the mTOR pathway may also be effective in this KPTN-related syndrome. Trials of mTOR inhibitors in mouse models of the condition are currently underway and provide promise that a treatment option may be available in the future.

Where can I learn more?

To learn more about KPTN and our families, please see the articles in our blog. For more detailed scientific information, please see the “For Medical Professionals” page for links to research articles.

%d bloggers like this: