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Article

Whole-Exome Sequencing Identified a Novel Mutation in an Iranian Patient with Epidermolysis Bullosa.

Iranian biomedical journal - 1 Mar 2026

Mirfakhraie Reza, Hassani Fard Katiraei Solmaz, Mirnezami Mina, Bayat Sahar, Soosanabadi Mohsen, Kookhaei Ali, Gholami Milad

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42418347
DOI: 10.61882/ibj.5232

Genes

COL17A1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Whole-Exome Sequencing Identified a Novel Mutation in an Iranian Patient with Epidermolysis Bullosa.PMID 42418347Read ↗

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Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosaSemantic proximity Read ↗

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.Semantic proximity Read ↗

Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing.Semantic proximity Read ↗

Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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