Dominant dystrophic epidermolysis bullosa pruriginosa with the G2287R mutation

Yajima, Moyu; Kitoh, Akihiko; Nakano, Hajime; Sawamura, Daisuke; Kabashima, Kenji

doi:10.1684/ejd.2012.1799

Cited by 2 publications

(3 citation statements)

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“…In a literature review, mutations in 74 DEB-Pruriginosa patients had been recorded, and 52.7% of cases were caused by GS variants in the THC domain ( 24 ), while 9 patients (56%) carried GS variants in our study. Furthermore, the current study found a “hotspot” mutation p.G2287R in 3 patients (patients 51, 52, and 57), which was reported previously ( 25 ). All splice site mutations were found in the THC region, and most were located at the 3’end region of exon 87 or near the donor site of intron 87 ( Fig.…”

Section: Discussionsupporting

confidence: 89%

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases

Yu¹,

Wang²,

Mi³

et al. 2021

Acta Derm Venereol

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Epidermolysis bullosa encompasses a group of inherited blistering skin disorders. The pathogenic mutations in 10–25% of patients with epidermolysis bullosa have not been identified by Sanger sequencing. The aims of this study were to identify the pathogenic sequence alterations in a large cohort of Chinese patients with epidermolysis bullosa and to clarify the relationship between clinical phenotypes and genotypes. Whole-exome sequencing was performed on 44 pedigrees and 13 sporadic cases. The results were further confirmed by Sanger sequencing. In total, 52 mutations, comprising 19 novel and 33 previously reported mutations, were identified in 5 genes, with a mutation detection rate of 100%. A relationship between subtypes and pathogenic genes was established: 12 cases of epidermolysis bullosa simplex were associated with mutations in KRT5/14 and PLEC ; one case of junctional epidermolysis bullosa carried mutations in ITGB4 ; and 44 cases of dystrophic epidermolysis bullosa were caused by mutations in COL7A1 . The results of this study support whole-exome sequencing as a promising tool in the genetic diagnosis of epidermolysis bullosa.

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Section: Discussionsupporting

confidence: 89%

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases

Yu¹,

Wang²,

Mi³

et al. 2021

Acta Derm Venereol

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“…In the present study, it was observed that G2287R resulted in mild disease manifestations in the proband and related family members, which is consistent with previous studies in both Japanese and Chinese patients ( 28 , 29 , 35 ). These findings support the notion that specific glycine substitutions in the collagenous domain of COL7A1 relate to mild diseases.…”

Section: Discussionsupporting

confidence: 93%

“…1C ). This variant (c.6859 G>A) in the COL7A1 gene has been reported in the DEB-Pr by Japanese studies ( 28-30 ). To predict the potential impact of the variant on the protein functions, different bioinformatic analysis tools were used and returned with predicted values, including the SIFT (value: 0.0), PolyPhen2 (value: 0.998), mutation assessor (value: 4.32), mutation taster (value: 0.999), FATHMM (value: -6.29) and CADD (value: 6.70).…”

Section: Resultssupporting

confidence: 55%

Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole‑exome sequencing

Yang,

Gao,

Zhang

et al. 2023

Exp Ther Med

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Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of inherited DEB. In the present study, whole-exome sequencing was conducted on 12 individuals from the same affected family and a rare heterozygous variation was identified in the collagen type VII, α1 (COL7A1) gene, namely c.6859G>A (p.Gly2287Arg). Subsequently, this heterozygous variant was confirmed using Sanger sequencing of individual plasma cell-free DNA (cfDNA) and it was demonstrated for the first time, to the best of our knowledge, that COL7A1 exons can be amplified from plasma cfDNA. Within the large pedigree examined, 14 out of 18 individuals carried the variant, 3 carried the wild type, and one exceptional case, III-9, showed no disease symptoms despite carrying the disease variant. A general association between genotype and phenotype was established. Of note, the mutation landscape indicated that this G2287R variant is primarily reported in Asian countries. In silico structure prediction suggested that the residue resulting from the mutation may affect collagen protein stability. In conclusion, the present study provides evidence for the involvement of the COL7A1 G2287R gene variant in the development of DEB-Pr and highlights the potential utility of cfDNA in genetic disease diagnosis.

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Dominant dystrophic epidermolysis bullosa pruriginosa with the G2287R mutation

Cited by 2 publications

References 0 publications

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases

Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole‑exome sequencing

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