Iranian
Biomedical Journal
Volume 30, Issue 3 And 2 (4-2026)
IBJ 2026, 30(3 And 2): 188-192 |
Back to browse issues page
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Mirfakhraie R, Hassani Fard Katiraei S, Mirnezami M, Bayat S, Soosanabadi M, Kookhaei A et al . Whole-Exome Sequencing Identified a Novel Mutation in an Iranian Patient with Epidermolysis Bullosa. IBJ 2026; 30 (3 and 2) :188-192
URL: http://ibj.pasteur.ac.ir/article-1-5232-en.html
URL: http://ibj.pasteur.ac.ir/article-1-5232-en.html
Reza Mirfakhraie 
, Solmaz Hassani Fard Katiraei , Mina Mirnezami , Sahar Bayat , Mohsen Soosanabadi , Ali Kookhaei , Milad Gholami *
, Solmaz Hassani Fard Katiraei , Mina Mirnezami , Sahar Bayat , Mohsen Soosanabadi , Ali Kookhaei , Milad Gholami *
Abstract:
Background: Epidermolysis bullosa (EB) is a rare, genetically heterogeneous disorder characterized by skin fragility. EB is categorized into four types: simplex, junctional, dystrophic, and Kindler syndromes. The condition is caused by mutations in several genes that are important for skin integrity and dermal-epidermal adhesion. In the present study, we recruited a patient with EB from an Iranian pedigree for genetic evaluation.
Methods: Whole-exome sequencing (WES) and bioinformatics analysis were performed using genomic DNA from the patient with EB. The potential variant was confirmed by Sanger sequencing.
Results: We identified a novel likely pathogenic variant in exon 3 of the COL17A1 gene: c.82dup (p.Thr28Asnfs15). The patient’s parents were heterozygous carriers of this mutation. In silico structural prediction suggested that this variant could cause premature termination of COL17A1. This variant is associated with intermediate junctional EB-4 (JEB4).
Conclusion: This study highlights that WES enhances our understanding of genetic diagnosis, and it contributes to the expanded mutational spectrum of the COL17A1 gene associated with JEB.
Methods: Whole-exome sequencing (WES) and bioinformatics analysis were performed using genomic DNA from the patient with EB. The potential variant was confirmed by Sanger sequencing.
Results: We identified a novel likely pathogenic variant in exon 3 of the COL17A1 gene: c.82dup (p.Thr28Asnfs15). The patient’s parents were heterozygous carriers of this mutation. In silico structural prediction suggested that this variant could cause premature termination of COL17A1. This variant is associated with intermediate junctional EB-4 (JEB4).
Conclusion: This study highlights that WES enhances our understanding of genetic diagnosis, and it contributes to the expanded mutational spectrum of the COL17A1 gene associated with JEB.
Type of Study: Case Report |
Subject:
Molecular Genetics & Genomics
References
1. Ma THT, Luong TLA, Hoang TL, Nguyen TTH, Vu TH, Tran VK, et al. Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing. Mol Genet Genomic Med. 2021;9(8):1748. [DOI:10.1002/mgg3.1748]
2. Yueqian Y, Zhenzhen W, Zihao M, Lele S, Xi'an F, Gongqi Y, et al. Epidermolysis bullosa in Chinese patients: Genetic analysis and mutation landscape in 57 pedigrees and sporadic cases. Acta Derm Venereol. 2021;101(7):503. [DOI:10.2340/00015555-3843]
3. Fozia F, Nazli R, Bibi N, Khan SA, Muhammad N, Shakeeb N, et al. Whole exome sequencing confirms molecular diagnostics of three Pakhtun families with autosomal recessive epidermolysis Bullosa. Front Pediatr. 2021;9:727288. [DOI:10.3389/fped.2021.727288]
4. Widhiati S, Danarti R, Trisnowati N, Purnomosari D, Wibawa T, Soebono H. Novel mutations of epidermolysis bullosa identified using whole-exome sequencing in Indonesian Javanese patients. Intractable Rare Dis Res. 2021;10(2):88-94. [DOI:10.5582/irdr.2020.03150]
5. Yenamandra VK, Vellarikkal SK, Kumar M, Chowdhury MR, Jayarajan R, Verma A, et al. Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India. J Dermatol Sci. 2017;86(1):30-6. [DOI:10.1016/j.jdermsci.2016.12.020]
6. Rostampour D, Zolfaghari MR, Gholami M. Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy. J Clin Lab Anal. 2022;36(3):24253. [DOI:10.1002/jcla.24253]
7. Hany U, Watson CM, Liu L, Smith CEL, Harfoush A, Poulter JA, et al. Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. J Med Genet. 2024;61(4):347-55. [DOI:10.1136/jmg-2023-109510]
8. Hoffmann J, Casetti F, Reimer A, Leppert J, Grüninger G, Has C. A silent COL17A1 variant alters splicing and causes junctional epidermolysis bullosa. Acta Derm Venereol. 2019;99(4):460-1. [DOI:10.2340/00015555-3133]
9. Nishie W. Collagen XVII processing and blistering skin diseases. Acta Derm Venereol. 2020;100(5):54. [DOI:10.2340/00015555-3399]
10. Nakamura H, Sawamura D, Goto M, Nakamura H, Kida M, Ariga T, et al. Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta. Int J Mol Med. 2006;18(2):333-7. [DOI:10.3892/ijmm.18.2.333]
| Rights and permissions | |
 |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
IBJ is a member of Committee on Publication Ethics (COPE)
and follows its guidelines |
The articles of this journal are licensed under
a Creative Commons Attribution-NonDerivatives 4.0 International License. .png) |
 IBJ is owned and published by Pasteur Institute of Iran |