Novel Mutation in the ATP-Binding Cassette Transporter A3 (ABCA3) Encoding Gene Causes Respiratory Distress Syndrome in A Term Newborn in Southwest Iran

Farideh Rezaei; Mohammad Shafiei; Gholamreza Shariati; Ali Dehdashtian; Maryam Mohebbi; Hamid Galehdari

doi:10.5812/ijp.2493

Novel Mutation in the ATP-Binding Cassette Transporter A3 (ABCA3) Encoding Gene Causes Respiratory Distress Syndrome in A Term Newborn in Southwest Iran

Iran J Pediatr. 2016 Mar 5;26(2):e2493. doi: 10.5812/ijp.2493. eCollection 2016 Apr.

Authors

Farideh Rezaei¹, Mohammad Shafiei¹, Gholamreza Shariati², Ali Dehdashtian³, Maryam Mohebbi², Hamid Galehdari¹

Affiliations

¹ Deptartment of Genetics, Faculty of Science, Shahid Chamran University, Ahvaz, IR Iran.
² Narges Medical Genetic Laboratory, Ahvaz, IR Iran; Jundishapur University of Medical Sciences, Ahvaz, IR Iran.
³ Jundishapur University of Medical Sciences, Ahvaz, IR Iran.

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.

Keywords: ABCA3 Gene Mutation; Respiratory Distress Syndrome (RDS); Southwest Iran; Surfactant.

Publication types

Case Reports