Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
- Journal:
- Science Translational Medicine
- Published:
- DOI:
- 10.1126/scitranslmed.abm4869
- Affiliations:
- 17
- Authors:
- 32
Research Highlight
Gene responsible for lymphatic system disorder found
© SHUBHANGI GANESHRAO KENE/Science Photo Library/Getty Images
Researchers have identified the genetic cause of a disorder to the body’s lymphatic system that can result in stillbirth or an ongoing battle with chronic disease in affected children.
One of the lymphatic system’s roles is to maintain fluid levels in the body. But if an anomaly develops in lymphatic vessels of a child in the womb, the heart, lungs and other organs can become flooded with fluid. Known as central conducting lymphatic anomaly (CCLA), this condition can cause still birth or severe chronic disease in children.
Now, by studying six families affected by CCLA, a team led by researchers from the University of Adelaide in Australia has discovered that a mutated version of a protein-coding gene known as MDFIC gives rise to CCLA.
This knowledge will help inform efforts to develop new treatments for the condition, the researchers say.
References
- Science Translation Medicine 14, eabm4869 (2022). doi: 10.1126/scitranslmed.abm4869