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

We identify five individuals from four unrelated families harboring bi-allelic loss-of-function variants in TMEM63B with childhood interstitial lung disease and developmental delay. Convergent data from affected individuals and mouse model experiments reported in the literature support an autosomal-recessive TMEM63B-related syndromic surfactant dysfunction disorder, expanding the phenotypic spectrum of TMEM63B-associated conditions.