A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa

Wang, Yan; Zhao, Junyu; Tu, Ping; Jiang, Wei

doi:10.1016/j.jdermsci.2007.01.004

Cited by 8 publications

(6 citation statements)

References 8 publications

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“…2 demonstrates that most mutations locate in the triple helical region and most mutations are G substitutions at the first position of Gly-X-Y repeats in this region (6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21). Fig.…”

Section: Discussionmentioning

confidence: 98%

Genotype–Phenotype Correlation in Chinese Patients with Dystrophic Epidermolysis Bullosa Pruriginosa

Jiang

Sun²,

Lei³

2012

Acta Derm Venerol

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Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare variant of dystrophic epidermolysis bullosa (DEB) due to dominant or recessive mutations in the COL7A1 gene. More than 40 mutations in COL7A1 have been described in DEB-Pr. The aim of this study was to understand the genotype-phenotype correlation in Chinese patients with DEB-Pr. Three Chinese families with typical clinical features of DEB-Pr were studied. The results were analysed in association with the eight Chinese DEB-Pr patients reported in the literature. In the three Chinese families with DEB-Pr, we found two dominant cases with G1773R and c.6900+1G>C mutations, and one case with heterozygous G2701W mutation of uncertain inheritance mode. In the 10 Chinese patients with dominant type of DEB-Pr, 7 glycine substitutions and three splicing site mutations of exon 87 skipping were identified. Glycine substitution mutations in the triple helix region and exon 87 skipping, leading to the in-frame deletion of 23 amino acid residues in the triple-helix, are often seen in Chinese patients with dominant DEB-Pr, although the glycine substitutions are also frequently present in dominant DEB.

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Section: Discussionmentioning

confidence: 98%

Genotype–Phenotype Correlation in Chinese Patients with Dystrophic Epidermolysis Bullosa Pruriginosa

Jiang

Sun²,

Lei³

2012

Acta Derm Venerol

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“…Another case that drew our attention is family 30 with seven affected individuals in three generations. The variant found in this family is c.7877G > A; p.Gly2626Asp, which was first reported in a large family associated with DDEB pruriginosa (Wang et al, 2007).…”

Section: Dominant Debmentioning

confidence: 62%

Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation

Natale

Manzur

Lusso

et al. 2022

American J of Med Genetics Pt A

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Dystrophic epidermolysis bullosa (DEB) is a clinically heterogeneous heritable skin disorder, characterized by blistering of the skin and mucous membranes following minor trauma. Dominant (DDEB) and recessive (RDEB) forms are caused by pathogenic variants in COL7A1 gene. Argentina's population has a heterogeneous genetic background, and little is known about the molecular basis of DEB in our country or in native South American populations. In this study, we present the prevalence and geographical distribution of pathogenic variants found in 181 patients from 136 unrelated families (31 DDEB and 105 RDEB). We detected 95 different variants, 59 of them were previously reported in the literature and 36 were novel, nine of which were detected in more than one family. The most prevalent pathogenic variants were identified in exon 73 in DDEB patients and in exon 3 in RDEB patients. We also report a new phenotype–genotype correlation found in 10 unrelated families presenting mild blistering and severe mucosal involvement. Molecular studies in populations with an unexplored genetic background like ours revealed a diversity of pathogenic variants, and we hope that these findings will contribute to the definition of targets for new gene therapies.

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“…10,11,15 Dominant dystrophic EB pruriginosa is usually caused by glycine substitutions. 11,[16][17][18][19][20][21][22][23] Although nonglycine substitutions have previously been reported, the missense mutation of glutamine to arginine in the present family is new. Some studies 2,24 report consistent clinical features among individuals within certain families with EBP.…”

Section: Discussionmentioning

confidence: 99%

Epidermolysis Bullosa Pruriginosa

Vivehanantha¹,

Carr²,

McGrath³

et al. 2013

JAMA Dermatol

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A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa

Cited by 8 publications

References 8 publications

Genotype–Phenotype Correlation in Chinese Patients with Dystrophic Epidermolysis Bullosa Pruriginosa

Genotype–Phenotype Correlation in Chinese Patients with Dystrophic Epidermolysis Bullosa Pruriginosa

Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation

Epidermolysis Bullosa Pruriginosa

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