novel mutation in the atp-binding cassette transporter a3 (abca3) encoding gene causes respiratory distress syndrome in a term newborn in southwest iran

Introduction: 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. case presentation: 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.