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Genetic features of Japanese children with ABCA3 deficiency.

Early human development - 1 May 2026

Takeda Kenta, Cho Kazutoshi, Kaneshi Yosuke, Honjo Ryota, Nakamura Yuichi, Manabe Atsushi

Abstract excerpt

BACKGROUND: ATP-binding cassette transporter A3 (ABCA3) deficiency is a rare form of interstitial lung disease caused by biallelic pathogenic variants in ABCA3, it is the most common cause of genetic surfactant deficiency among European and US infants and children. This study aimed to elucidate the genetic features of ABCA3 deficiency in Japanese children. MATERIALS AND METHODS: From April 2011 to March 2024, 291...

Topics

Humans
ATP-Binding Cassette Transporters
Japan
Infant
Female
Male
Lung Diseases, Interstitial
Child, Preschool
Infant, Newborn
Mutation
East Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41775581
DOI: 10.1016/j.earlhumdev.2026.106493

Genes

ABCA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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