Author/Authors :
Rezaei Abhari، Farideh نويسنده M.Sc. Midwifery .Faculty of midwifery,Nasibeh Nursing and Midwifery Department, Vesal Street, Amir Mazandarani Boulevard, Sari - Mazandaran Province - Iran , , Shafiei، Mohammad نويسنده Isfahan Kidney Diseases Research Center, Isfahan University of Medical Sciences, Isfahan , , Shariati، Gholamreza نويسنده Narges Genetic Lab, Mihan St., Kianpars, Ahvaz, Iran. , , Dehdashtian، Ali نويسنده Jundishapur University of Medical Sciences, Ahvaz, IR Iran , , Mohebbi، Maryam نويسنده Department of Biomedical Engineering, Faculty of Electrical Engineering , , Galehdari، Hamid نويسنده ,
Abstract :
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.
