|
Post-Mortem Diagnosis of Heme Oxygenase-1 Deficiency by Whole Exome Sequencing in an Iranian Child
|
Fatemeh Tahghighi1   , Nima Parvaneh2  , Vahid Ziaee 3 |
1- Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran; Department of Pediatrics, Tehran University of Medical Sciences,Tehran, Iran.
2- Division of Allergy and Clinical immunology, Department of Pediatrics, Tehran University of Medical Sciences,Tehran, Iran; Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran.
3- Department of Pediatrics, Tehran University of Medical Sciences,Tehran, Iran; Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. , Ziaee@tums.ac.ir |
|
|
Abstract: (4195 Views) |
Heme oxygenase-1 (HO-1) is an inducible enzyme involved in the catalysis of heme conversion into biliverdin. We describe a patient with a novel stop-gain mutation in the HMOX1 coding sequence resulting in HO-1 deficiency.
|
|
| Keywords: Hemeoxygenase-1 deficiency, post-mortem diagnosis, HO-1 gene, Iranian child |
|
|
Full-Text [PDF 188 kb]
(1603 Downloads)
|
Type of Study: Case Report |
Subject:
Genetics & Disease
Received: 2019/09/21 | Accepted: 2020/04/10 | Published: 2020/05/29
|
|
|
|
|
|
|
| Send email to the article author |
|
|
|
| Add your comments about this article |
|
|
|
