Novel Mutation in the ATP-Binding Cassette Transporter A3 (ABCA3) Encoding Gene Causes Respiratory Distress Syndrome in A Term Newborn in Southwest Iran
| Author | Farideh Rezaei | en |
| Author | Mohammad Shafiei | en |
| Author | Gholamreza Shariati | en |
| Author | Ali Dehdashtian | en |
| Author | Maryam Mohebbi | en |
| Author | Hamid Galehdari | en |
| Orcid | Gholamreza Shariati [0000-0002-6295-127X] | en |
| Orcid | Hamid Galehdari [0000-0001-6281-4809] | en |
| Issued Date | 2016-04-28 | en |
| 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. | en |
| DOI | https://doi.org/10.5812/ijp.2493 | en |
| URI | https://brieflands.com/journals/ijp/articles/2493 | en |
| Keyword | Surfactant | en |
| Keyword | ABCA3 Gene Mutation | en |
| Keyword | Respiratory Distress Syndrome (RDS) | en |
| Keyword | Southwest Iran | en |
| Publisher | Brieflands | en |
| Title | Novel Mutation in the ATP-Binding Cassette Transporter A3 (ABCA3) Encoding Gene Causes Respiratory Distress Syndrome in A Term Newborn in Southwest Iran | en |
| Type | Case Report | en |
Files
Original bundle
1 - 1 of 1
Loading...
- Name:
- ijp-26-02-2493.pdf
- Size:
- 111.88 KB
- Format:
- Adobe Portable Document Format
- Description:
- Article/s PDF