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Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder

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2 institutional releases

Published in American Journal of Human Genetics · View the paper (DOI)

A new report describes a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, resulting in severe lung disease. The study identified five individuals from four unrelated families with similar symptoms of early onset respiratory distress, lung abnormalities, and developmental delay.

Coverage from 2 institutions

  • Novel disorder causing severe respiratory dysfunction linked to loss-of-function TMEM63B variant
    • Article 1 Baylor College of Medicine · Jun 8, 2026 · first to report
    • Article 2 Texas Children's Hospital · Jun 10, 2026