Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co‐occurrence of dominant and recessive mutations

Brick, Ahlem Sabrine Ben; Laroussi, Nadia; Mesrati, H.; Kéfi, Rym; Ouragini, Houyem; Bchetnia, Mbarka; Romdhane, Lilia; Marrakchi, Slaheddine; Boubaker, Mohamed Samir; Castiglia, Daniele; Hovnanian, Alain; Abdelhak, Sonia; Turki, H.; Kharfi, Monia

doi:10.1111/jdv.12645

Cited by 4 publications

(2 citation statements)

References 8 publications

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“…6 The pGly2034Arg is a frequent dominant mutation which was reported with generalized DDEB, DDEB nails only 7 and DDEB pruriginosa. 8 Here, we provide evidence that p.Gly2034Arg could also be responsible for DDEB-pt. Of note, the father (EB-LP) Even if there is a change in an AA, the charge remains the same except in two species (Xenopus tropicalis and Xiphophorus maculatus).…”

mentioning

confidence: 57%

“…[5][6][7] Cutaneous involvement in CDS is a constant feature, and the clinical presentation corresponds to non-bullous congenital ichthyosiform erythroderma with fine, white scales involving the flexures, scalp and face, producing tautness or ectropion, but in several cases has been described as nonerythrodermic ichthyosis. Clinical presentation as Erythrokeratoderma variabilis-like icthyosis 8 and progressive symemetric erythrokeratoderma-like 9 has been reported. Hyperkeratosis in palms and soles, focal or diffuse alopecia, tranverse leuconychia, dystrophic or thickened nails, ungual pitting and onychoschizia are other dermatological manifestations occasionally reported in this disorder.…”

Section: Editormentioning

confidence: 96%

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Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co‐occurrence of dominant and recessive mutations

Brick

Laroussi

Mesrati

et al. 2014

Acad Dermatol Venereol

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mentioning

confidence: 57%

Section: Editormentioning

confidence: 96%

Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co‐occurrence of dominant and recessive mutations

Brick

Laroussi

Mesrati

et al. 2014

Acad Dermatol Venereol

Self Cite

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Genetic Insights Into Epidermolysis Bullosa: Identification of Novel Variants in Tunisian Patients

El Mabrouk,

Othman,

Boussofarra

et al. 2024

American J of Med Genetics Pt A

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Epidermolysis Bullosa (EB) is a group of genetic skin disorders characterized by extreme skin fragility and blistering. In North African countries, including Tunisia, complex genetic and phenotypic diversity is entangled with a scarcity of scientific research on EB. This lack of knowledge presents a distinct challenge in terms of diagnostic accuracy and patient care. Our study cohort includes 10 Tunisian patients with EB whose genetic profiles were investigated by exome sequencing. In silico analysis was conducted to determine the functional impact of three novel variants. We revealed ten genetic variants, including three novel ones within the COL7A1 and DST genes. The in silico analysis shed light on the potential structural and functional implications of these novel variants. By establishing the correlation between clinical features and genetic alterations, we have expanded the existing database of disease‐causing variants associated with EB in Northern Africa. Our study fills a critical knowledge gap in the North African context, where the scarcity of clinical database and genetic testing in addition to the genetic diversity necessitates comprehensive research. Our findings have the potential to improve diagnosis and management strategies for EB patients in low and middle‐income countries across the region, especially through the integration of exome sequencing and in silico analysis.

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Successful Treatment of Esophageal Stenosis in a Patient with Dystrophic Epidermolysis Bullosa Using Balloon Dilation

Yang

Xiong

Sun

et al. 2017

Journal of Vascular and Interventional Radiology

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Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co‐occurrence of dominant and recessive mutations

Cited by 4 publications

References 8 publications

Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co‐occurrence of dominant and recessive mutations

Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co‐occurrence of dominant and recessive mutations

Genetic Insights Into Epidermolysis Bullosa: Identification of Novel Variants in Tunisian Patients

Successful Treatment of Esophageal Stenosis in a Patient with Dystrophic Epidermolysis Bullosa Using Balloon Dilation

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