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

doi:10.1016/j.ajhg.2026.05.008

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Article

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

American journal of human genetics - 2 Jul 2026

Chan Sock Hoai, Iness Audra N, Rosenfeld Jill A, Bekheirnia Mir Reza, Burrage Lindsay C, Chau Matthew Hoi Kin, Htoo Chaerish Eint Myet Chae, Kao Eric C, Ketkar Shamika, Lim Wan Wan, Luo Xi, Mazlan Rifhan, Mizerik Elizabeth, Mun Kein Seong, Patel Kalyani R, Potocki Lorraine, Rapp Christina K, Roca Xavier, Saianda Ana, Iglesias-Serrano Ignacio, Siew Everlyn C, Sim Donald Yuhui, Spielberg David R, Tae Sok-Kun, Teo Jing Xian, Warfsmann Julian, Xia Fan, Jamuar Saumya S, Tan Ee Shien, Griese Matthias, Lim Weng Khong, Thong Meow-Keong, Machol Keren

Abstract excerpt

Transmembrane protein 63B gene (TMEM63B) encodes a mechanosensitive ion channel expressed in alveolar type II epithelial cells, where it mediates stretch-induced surfactant secretion. While heterozygous gain-of-function variants in TMEM63B have been associated with developmental and epileptic encephalopathy, no human disorder has previously been linked to bi-allelic loss-of-function variants. Here, we report five...

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Identifiers

PMID: 42259295
DOI: 10.1016/j.ajhg.2026.05.008
PMCID: PMC13310454

Genes

TMEM63B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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