Bockenheimer disease is associated with a TEK variant

Area of Science:

• Vascular biology
• Genetics
• Medical research

Background:

• Bockenheimer disease is a severe venous malformation affecting entire extremities.
• Current treatments are palliative, highlighting the need for etiological understanding and targeted therapies.

Purpose of the Study:

• To identify the underlying genetic cause of Bockenheimer disease.
• To explore potential pharmacotherapeutic targets for Bockenheimer disease.

Main Methods:

• DNA extraction from patient tissue samples.
• Droplet digital polymerase chain reaction (ddPCR) to screen for known venous malformation variants (TEK, PIK3CA).
• Sanger sequencing and restriction enzyme digestion for variant confirmation.

Main Results:

• A pathogenic TEK L914F variant was detected in all nine Bockenheimer disease patients.
• The variant allele fraction ranged from 2% to 13%.
• No PIK3CA variants (E542K, H1047R) were identified.

Conclusions:

• A pathogenic variant in the TEK gene is associated with Bockenheimer disease.
• Targeting the TEK signaling pathway presents a potential therapeutic strategy for patients.