A Novel COL7A1 Gene Mutation in an Iranian Individual Suffering Dystrophic Epidermolysis Bullosa

Galehdari, Hamid; Mohammadian, Gholamreza; Azmoon, Somayeh; Salehi, Bahaoddin; Pedram, Massoud

doi:10.2353/jmoldx.2010.090145

Cited by 4 publications

(2 citation statements)

References 18 publications

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“…Similar circumstances also exist in Chinese RDEB patients [29]–[31]. Although most RDEB were induced by compound heterozygous mutations, the majority of severe mutilating RDEB were caused by homozygous mutations leading to premature translational termination [32].…”

Section: Discussionmentioning

confidence: 67%

Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa

et al. 2012

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Dystrophic epidermolysis bullosa is an inherited bullous dermatosis caused by the COL7A1 gene mutation in autosomal dominant or recessive mode. COL7A1 gene encodes type VII collagen – the main component of the anchoring fibrils at the dermal–epidermal junction. Besides the 730 mutations reported, we identified two novel COL7A1 gene mutations in a Chinese family, which caused recessive dystrophic epidermolysis bullosa (RDEB). The diagnosis was established histopathologically and ultrastructurally. After genomic DNA extraction from the peripheral blood sample of all subjects (5 pedigree members and 136 unrelated control individuals), COL7A1 gene screening was performed by polymerase chain reaction amplification and direct DNA sequencing of the whole coding exons and flanking intronic regions. Genetic analysis of the COL7A1 gene in affected individuals revealed compound heterozygotes with identical novel mutations. The maternal mutation is a 2-bp deletion at exon 8 (c.1006_1007delCA), leading to a subsequent reading frame-shift and producing a premature termination codon located 48 amino acids downstream in exon 9 (p.Q336EfsX48), consequently resulting in the truncation of 2561 amino acids downstream. This was only present in two affected brothers, but not in the other unaffected family members. The paternal mutation is a 1-bp deletion occurring at the first base of intron 65 (c.IVS5568+1delG) that deductively changes the strongly conserved GT dinucleotide at the 5′ donor splice site, results in subsequent reading-through into intron 65, and creates a stop codon immediately following the amino acids encoded by exon 65 (GTAA→TAA). This is predicted to produce a truncated protein lacking of 1089 C-terminal amino acids downstream. The latter mutation was found in all family members except one of the two unaffected sisters. Both mutations were observed concurrently only in the two affected brothers. Neither mutation was discovered in 136 unrelated Chinese control individuals. This study reveals novel disease-causing mutations in the COL7A1 gene.

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Section: Discussionmentioning

confidence: 67%

Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa

et al. 2012

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“…This study is the first on Iranian patients with DEB. It was done and confirmed using molecular diagnosis (16).…”

Section: Discussionmentioning

confidence: 99%

Investigation of Genetic Mutations in the Exon-intron Regions of the COL7A1 Gene in five Family Case Reports with Epidermolysis Bullosa in Khuzestan Province

Ameri

Moradzadegan

2023

Gene Cell Tissue

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Background: Dystrophic Epidermolysis bullosa (DEB) is one of the EB types caused by a mutation in the COL7A1 gene, which encodes collagen type 7 and is the main component of anchoring fibrils. Objectives: This study aimed to investigate COL7A1 gene mutations in five families of patients. Khuzestan is suffering from EB. Methods: After extracting genomic DNA from peripheral blood samples of probands, COL7A1 gene screening was performed using polymerase chain reaction and direct sequencing of exons 36-37 and their adjacent introns with the Sanger sequencing method. Results: The identified mutations included a new homozygous deletion mutation in exon 36 (c.2669delC) that resulted in a change in the open reading frame. Other obtained variants are the common mutations c.4233delC and c.4233delT in exon 37, which were identified as proline substitution mutations in one mutant allele in the homozygous form and three allele mutants in the heterozygous form. Conclusions: In this study, presenting a new mutation in the COL7A1 gene is the focus of the molecular heterogeneity of DEB. In addition, the efficient identification of COL7A1 gene mutations provides more information for the accurate diagnosis and prediction of the disease, genetic counseling, and prenatal diagnosis.

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Genetics of Isolated Hereditary Nail Disorder

Basit

2017

Encyclopedia of Life Sciences

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Recent advances in molecular genetics and emergence of next‐generation genomic tools have led to the identification of many genes expressed in nail matrix/bed. However, the precise roles of these genes in the nail development and regeneration have not completely been disclosed. Using the methods of forward genetics, a series of genes responsible for hereditary nail disorders have recently been identified. Furthermore, expression and functional analyses have gradually revealed that these genes are directly or indirectly related with each other. This article briefly discusses the clinical and genetic perspective on defining and classifying isolated hereditary nail disorders and the overlapping genetic pathways. The journey towards unravelling the molecular basis of hereditary nail disorders will contribute to better understanding of the complex mechanisms for nail morphogenesis and development in humans. Key Concepts Genetic and non‐genetic factors contribute to nail diseases. Hereditary nail disorders may exist as an isolated entity or associated with other diseases. Underlying genes in nail disorders and signalling pathways in nail development can provide a logical basis for the classification of genetic disorders of nail. To date, mutations in five genes have been identified as a cause of isolated hereditary nail disorders. Development of nail unit requires epithelial–mesenchymal interactions. Wnt signalling pathway is crucial for maintaining epithelial–mesenchymal interaction. Lipid biosynthesis is required for the development and maintenance of proper nail structure.

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A Novel COL7A1 Gene Mutation in an Iranian Individual Suffering Dystrophic Epidermolysis Bullosa

Cited by 4 publications

References 18 publications

Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa

Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa

Investigation of Genetic Mutations in the Exon-intron Regions of the COL7A1 Gene in five Family Case Reports with Epidermolysis Bullosa in Khuzestan Province

Genetics of Isolated Hereditary Nail Disorder

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