A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa: More severe phenotype in female members of a Chinese family

Deng, Weiping; Yang, Keqin; Lu, Chun; Zhou, Xiang; Hu, Bin; Chen, Minghua; Wei, Lai; Wang, Yiming

doi:10.1016/j.jdermsci.2007.08.007

Cited by 4 publications

(3 citation statements)

References 7 publications

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“…Variant c.5099G > T, p.(Gly1700Val) in exon 56 was found in a mother and son presenting mild symptoms. This particular variant has not yet been reported, but the change of glycine to aspartic acid in this position (p.Gly1700Asp) has been reported associated with DDEB (Deng et al, 2008).…”

Section: Resultsmentioning

confidence: 98%

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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Section: Resultsmentioning

confidence: 98%

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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show abstract

“…Given that there was a signi cant difference in gender between the two groups (p < 0.1), it was included in the logistic regression analysis as a factor that may affect the postoperative hand function of patients. Although the nal result was not statistically signi cant (p > 0.05), Deng et al observed that female patients had more severe phenotypes in gene mutations and speculated that there might be a modi ed gene that played a phenotypic effect in autosomal-inherited DEB [9]. Thus, the effect of gender on the postoperative hand function of DEB patients warrants further investigations.…”

Section: Discussionmentioning

confidence: 94%

Analysis of factors influencing hand function in patients with Dystrophic Epidermolysis Bullosa following surgery

Wang

Jiao

Yang

2022

Preprint

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Background Dystrophic epidermolysis bullosa (DEB) is a hereditary disease characterized by increased fragility of the epidermis and mucosa and is accompanied by blister formation following minor trauma. The patient develops blisters on the skin, which heal after being broken. Repeated injuries cause contracture and scar formation, which can further result in hand deformity, leading to a decline in hand ability and a lower quality of life.It is thus, critical to reconstructing the function and appearance of their hands through surgical manipulation to aid their reintegration into society. Objectives This study aimed to analyze patients' clinical and follow-up information to investigate the influencing factors of hand function in patients with dystrophic epidermolysis bullosa after the release of scar contracture in both hands.Methods The hand function of the patients two years after the operation was assessed in accordance with the evaluation criteria formulated by the hand surgery branch of the Chinese Medical Association in 2000. According to the scoring results, the patients were divided into two groups. Those with excellent and good grades were assigned to the open hand function group, and those with poor and poor grades were allocated to the restricted hand function group. The primary conditions, the use of a postoperative hand brace, and some common factors in the two groups were compared to determine whether these parameters influence postoperative hand function.Results There were no significant differences in age, gender, nationality, body mass index, ADL assessment index, albumin concentration, hemoglobin concentration, fasting blood glucose level, prothrombin time, and activated partial thromboplastin time between the two groups (p>0.05). In contrast, there was a significant difference between the two groups in the use of hand braces following the operation (p<0.05). The odds ratio of patients fixed with a brace compared with patients not fixed with a brace was 11.01.Conclusions Hand brace is a critical factor impacting the hand function of patients with dystrophic epidermolysis bullosa after scar contracture release in both hands. Indeed, a hand brace worn after the operation can delay the recurrence of scar contracture in both hands and offer patients a longer time to use their hands effectively.Level of Evidence IV

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“…Given that there was a potential difference in gender between the two groups, it was included in the logistic regression analysis as a factor that may affect the postoperative hand function of patients. Although the final result was not statistically significant (p > 0.05), Deng et al observed that female patients had more severe phenotypes in gene mutations and speculated that there might be a modified gene that played a phenotypic effect in autosomal-inherited DEB (10). Thus, the effect of gender on the postoperative hand function of DEB patients warrants further investigations.…”

Section: Discussionmentioning

confidence: 96%

Simple and affordable soft brace application in dystrophic epidermolysis bullosa patients

Wu,

Jiao

2024

Front. Surg.

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BackgroundDystrophic epidermolysis bullosa (DEB) is a hereditary disease characterized by increased fragility of the epidermis and mucosa and is accompanied by blister formation following minor trauma. Repeated injuries cause contracture and scar formation, which can further result in hand deformity, leading to a decline in hand ability and a lower quality of life. In this study, after the scar release of patients' hands, we developed a new and practical portable soft support, and evaluated its efficacy in delaying the scar contracture of hands after operation.MethodsAccording to the hand function scores, the patients were divided into two groups. Those with excellent and good grades were assigned to the open hand function group, and those with poor grades were allocated to the restricted hand function group. The primary conditions, the use of a postoperative soft brace, and some common factors in the two groups were compared to determine whether these parameters influence postoperative hand function.ResultsThere were no significant differences in age, gender, body mass index, ADL assessment index, albumin concentration, hemoglobin concentration, fasting blood glucose level, prothrombin time, and activated partial thromboplastin time between the two groups (p > 0.05). In contrast, there was a significant difference between the two groups in the use of soft braces following the operation (p < 0.05). The odds ratio of patients fixed with a brace compared with patients not fixed with soft braces was 11.01.ConclusionsSoft brace is a critical factor impacting the hand function of patients with dystrophic epidermolysis bullosa after scar contracture release in both hands. Indeed, a hand brace worn after the operation can delay the recurrence of scar contracture in both hands and offer patients a longer time to use their hands effectively. In addition, by restoring the appearance of patients' hands and some hand functions, patients' mental state and quality of life have been greatly improved.

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A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa: More severe phenotype in female members of a Chinese family

Cited by 4 publications

References 7 publications

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

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

Analysis of factors influencing hand function in patients with Dystrophic Epidermolysis Bullosa following surgery

Simple and affordable soft brace application in dystrophic epidermolysis bullosa patients

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