A Term Neonatal Case With Lethal Respiratory Failure Associated With a Novel Homozygous Mutation in ABCA3 Gene

Frontiers in Pediatrics

article

Meili Wei¹  Haibo Fu¹  Aiqin Han¹  Liji Ma¹ 

[1] Department of Pediatrics, Zibo Central Hospital

关键词: full-term neonate;    ABCA3 gene;    pulmonary surfactant;    interstitial lung diseases;    lethal respiratory distress syndrome;   

DOI  :  10.3389/fped.2020.00138

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

The mutations in the ABCA3 (ATP-binding cassette transporter subfamily A member 3) gene could result in lethal respiratory distress syndrome (RDS) in neonates and interstitial lung disease (ILD) in infants and children. Here, we describe a full-term newborn who manifested respiratory distress 20 min after birth and then gradually developed hypoxemic respiratory failure and died on 53 days of life. A homozygous missense mutation (c.746C >T) was identified in exon 8 of ABCA3 gene in the neonate by next-generation sequencing, and the mutations were inherited from parents, respectively. This homozygous mutation is the first reported to date.

【 授权许可】

CC BY