title: Novel Mutation in the ATP-Binding Cassette Transporter A3 (ABCA3) Encoding Gene Causes Respiratory Distress Syndrome in A Term Newborn in Southwest Iran.
abstract: BACKGROUND
  ABCA3 glycoprotein belongs to the ATP-binding cassette (ABC) superfamily of transporters, which utilize the energy derived from hydrolysis of ATP for the translocation of a wide variety of substrates across the plasma membrane. Mutations in the ABCA3 gene are knowingly causative for fatal surfactant deficiency, particularly respiratory distress syndrome (RDS) in term babies.
  
  
  METHODS
  In this study, Sanger sequencing of the whole ABCA3 gene (NCBI NM_001089) was performed in a neonatal boy with severe RDS. A homozygous mutation has been identified in the patient. Parents were heterozygous for the same missense mutation GGA > AGA at position 202 in exon 6 of the ABCA3 gene (c.604G > A; p.G202R). Furthermore, 70 normal individuals have been analyzed for the mentioned change with negative results.
  
  
  CONCLUSIONS
  Regarding Human Genome Mutation Database (HGMD) and other literature recherche, the detected change is a novel mutation and has not been reported before. Bioinformatics mutation predicting tools prefer it as pathogenic.
authors.affiliation: Deptartment of Genetics, Faculty of Science, Shahid Chamran University, Ahvaz, IR Iran.
authors.forename: Farideh
authors.initials: F
authors.lastname: Rezaei
authors.affiliation: Deptartment of Genetics, Faculty of Science, Shahid Chamran University, Ahvaz, IR Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Shafiei
authors.affiliation: Narges Medical Genetic Laboratory, Ahvaz, IR Iran; Jundishapur University of Medical Sciences, Ahvaz, IR Iran.
authors.forename: Gholamreza
authors.initials: G
authors.lastname: Shariati
authors.affiliation: Jundishapur University of Medical Sciences, Ahvaz, IR Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Dehdashtian
authors.affiliation: Narges Medical Genetic Laboratory, Ahvaz, IR Iran; Jundishapur University of Medical Sciences, Ahvaz, IR Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Mohebbi
authors.affiliation: Deptartment of Genetics, Faculty of Science, Shahid Chamran University, Ahvaz, IR Iran.
authors.forename: Hamid
authors.initials: H
authors.lastname: Galehdari
keywords: ABCA3 Gene Mutation; Respiratory Distress Syndrome (RDS); Southwest Iran; Surfactant