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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 26, No. 2, 2016, pp. 1-4
Bioline Code: pe16017
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 26, No. 2, 2016, pp. 1-4

 en Novel Mutation in the ATP-Binding Cassette Transporter A3 (ABCA3) Encoding Gene Causes Respiratory Distress Syndrome in A Term Newborn in Southwest Iran
Rezaei, Farideh; Shafiei, Mohammad; Shariati, Gholamreza; Dehdashtian, Ali; Mohebbi, Maryam & Galehdari, Hamid


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.
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.

Surfactant, ABCA3 Gene Mutation, Respiratory Distress Syndrome (RDS), Southwest Iran

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