Novel ABCA3 mutations as a cause of respiratory distress in a term newborn

Jean-Pierre Gonçalves; Liliana Pinheiro; Miguel Costa; Albina Silva; Augusta Gonçalves; Almerinda Pereira

doi:10.1016/j.gene.2013.11.015

Novel ABCA3 mutations as a cause of respiratory distress in a term newborn

Gene. 2014 Jan 25;534(2):417-20. doi: 10.1016/j.gene.2013.11.015. Epub 2013 Nov 20.

Authors

Jean-Pierre Gonçalves¹, Liliana Pinheiro², Miguel Costa², Albina Silva², Augusta Gonçalves³, Almerinda Pereira²

Affiliations

¹ Pediatric Department, Braga Hospital, Braga, Portugal; Community Health, School of Health Sciences, University of Minho, Portugal. Electronic address: pierre_3.14r@hotmail.com.
² Neonatology, Braga Hospital, Braga, Portugal.
³ Pediatric Department, Braga Hospital, Braga, Portugal.

PMID: 24269975
DOI: 10.1016/j.gene.2013.11.015

Abstract

We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.

Keywords: ABCA3; ATP-binding cassette A3 transporter; BAL; CT; DIP; LB; NBD; NKX2-1; RDS; Respiratory distress; SFTPB; SFTPC; Surfactant; broncho-alveolar lavage; computed tomography; desquamative interstitial pneumonitis; lamellar bodies; nucleotide binding domain; respiratory distress syndrome; surfactant protein-B; surfactant protein-C; thyroid transcription factor-1.

Publication types

Case Reports

MeSH terms

ATP-Binding Cassette Transporters / deficiency
ATP-Binding Cassette Transporters / genetics*
Female
Heterozygote
Humans
Infant, Newborn
Mutation*
Respiratory Distress Syndrome, Newborn / genetics*

Substances

ABCA3 protein, human
ATP-Binding Cassette Transporters