Post-Mortem Diagnosis of Heme Oxygenase-1 Deficiency by Whole Exome Sequencing in an Iranian Child

Tahghighi, Fatemeh; Parvaneh, Nima; Ziaee, Vahid

doi:10.22088/IJMCM.BUMS.8.4.300

Volume 8, Issue 4 (Int J Mol Cell Med 2019) Int J Mol Cell Med 2019, 8(4): 300-306 | Back to browse issues page

‎ 10.22088/IJMCM.BUMS.8.4.300

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Tahghighi F, Parvaneh N, Ziaee V. Post-Mortem Diagnosis of Heme Oxygenase-1 Deficiency by Whole Exome Sequencing in an Iranian Child. Int J Mol Cell Med 2019; 8 (4) :300-306
URL: http://ijmcmed.org/article-1-1161-en.html

Post-Mortem Diagnosis of Heme Oxygenase-1 Deficiency by Whole Exome Sequencing in an Iranian Child

Fatemeh Tahghighi¹

, Nima Parvaneh²

, Vahid Ziaee³

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: (5626 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] (2237 Downloads)

Type of Study: Case Report | Subject: Genetics & Disease
Received: 2019/09/21 | Accepted: 2020/04/10 | Published: 2020/05/29