Researchers identify genetic cause of severe childhood lung disease

Dr. Keren Machol, co-corresponding author, clinical geneticist at Texas Children's and assistant professor of molecular and human genetics at BaylorChildhood interstitial lung disease may be caused by variants in genes that are important to the production and function of surfactant, the material that helps our lungs to expand with breathing. Surfactant related disorders can be life threatening, requiring early diagnosis and appropriate management for best clinical outcome. Identifying variants in TMEM63B as a novel cause of this condition can significantly impact management of patients with this rare disorder."

When an individual has two loss-of-function variants, the channel is missing entirely. "The brain has other channels that can pick up the slack. But in the lung, there is no ability to make up for the loss of that channel. This is probably why we see the differences in conditions impacting the brain and the lungs based on the type of variant," Rosenfeld said.

"Through patient matching initiatives and international collaboration, we have successfully identified a novel TMEM63B-associated condition responsible for severe childhood lung disease. This discovery offers crucial answers to affected families and equips clinicians and diagnostic laboratories with new evidence for future diagnoses," said the study's first author, Dr. Sock Hoai Chan, principal medical laboratory scientist at KK Women's and Children's Hospital and Duke-NUS Medical School. "Our collective effort underscores the power of global partnerships in accelerating discoveries for even the rarest genetic conditions, and we are privileged to have contributed to this impactful research."

Source:

Texas Children's Hospital

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