Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.

ABSTRACT:

Background

ATP-binding cassette transporter A3 (ABCA3) deficiency is one of the most severe causes of childhood interstitial lung diseases (chILD). This study aims to report the RespiRare ABCA3 cohort and to establish phenotype-genotype correlations.

Methods

Phenotypic and genotypic data of patients under 18 years were retrospectively included (1995-2023) in the RespiRare centers. The initial presentation and evolution of the subjects was analyzed depending on their genotype.

Results

The ABCA3 cohort comprised 36 children (30 families), including 5.5%, 22%, and 72% of null/null (no protein), null/other (potential residual function) and other/other genotypes respectively. A neonatal respiratory distress syndrome was observed in 31 (86%) subjects and 27 (75%) died at a

SUBMITTER: Fleury M 

PROVIDER: S-EPMC12522028 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature