Mutations in the TBX4 gene can cause not only heritable pulmonary arterial hypertension (HPAH) in children but also skeletal anomalies causing issues with the knee and hip joints. TBX4 mutations can cause another serious illness, Interstitial Lung Disease in Childhood (chILD), which is also incurable.
Anton Morkin is the father of a young boy who carries the TBX gene mutation and has pulmonary arterial hypertension. He is the Founder of the TBX4Life website and community.
Anton started in 2020 to search and connect families affected by TBX4 Syndrome. Since pulmonary arterial hypertension is the most severe consequence of it, he says, many from TBX4 community join after their diagnosis and after genetic testing in one of the affected family members. However, the community also has members who are not affected by pulmonary arterial hypertension.
As of today many families from the USA, UK, several countries from the EU (like Germany, France, Netherlands, etc) and also from Australia and New Zealand have joined the movement.
Check this map to see where the members come from.
Read more about the TBX4 global community at:
- Private Facebook Group: “Families with Special TBX4 Gene”
- Public Facebook page: TBX4life
- Twitter page: TBX4ife
- TBX4Life website
- Email: info@tbx4.org
- Scientific Committee Members
- Languages supported: English, German; Other languages with automated translation only
The TBX4 community’s very first newsletter is now out and can be viewed at this link
