Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity

Pânzaru, Monica; Caba, Lavinia; Florea, Laura; Braha, Elena; Gorduza, Eusebiu Vlad

doi:10.3390/diagnostics12061325

Cited by 10 publications

(4 citation statements)

References 133 publications

(223 reference statements)

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“…Mutational analysis for the enamel defect revealed a recurrent frameshift pathogenic variant in the LAMB3 gene. This gene has been associated with intermediate and severe junctional epidermolysis bullosa (JEB1A and JEB1B, OMIM #226650 and #226700) in autosomal recessive inheritance [12]. Later, it was identified that some specific heterozygous mutations cause AI, Type IA (autosomal dominant hypoplastic AI, OMIM #104530) [13,14].…”

Section: Familymentioning

confidence: 99%

Recessive COL17A1 Mutations and a Dominant LAMB3 Mutation Cause Hypoplastic Amelogenesis Imperfecta

Kim,

Lee,

Chae

et al. 2023

JPM

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Hereditary conditions that affect tooth enamel in quantity and/or quality are called amelogenesis imperfecta (AI). AI can occur as an isolated condition or as a symptom of a syndrome. An OMIM search with the term “AI” yielded 79 result entries. Mutations in the same gene cause syndromic or non-syndromic AI, depending on the nature of the mutations. In this study, we recruited two AI families and performed mutational analysis using whole-exome sequencing. The proband of family 1, with hypoplastic pitted AI and mild localized atopic dermatitis, had compound heterozygous COL17A1 mutations (paternal NM_000494.4: c.3598G>T, p.Asp1200Tyr and maternal c.1700G>A, p.Gly567Glu). The proband of family 2, with hypoplastic pitted AI and Jervell and Lange-Nielsen syndrome, had a recurrent LAMB3 mutation (NM_000228.3: c.3463_3475del, p.(Glu1155Thrfs*51)) in addition to compound heterozygous mutations in the KCNQ1 gene.

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Section: Familymentioning

confidence: 99%

Recessive COL17A1 Mutations and a Dominant LAMB3 Mutation Cause Hypoplastic Amelogenesis Imperfecta

Kim,

Lee,

Chae

et al. 2023

JPM

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“…EB is characterised by the formation of numerous blisters on the skin as a result of minor mechanical trauma. Individual subtypes can produce symptoms such as nail dystrophy, pigmentation abnormalities, alopecia or even cardiomyopathy [40]. It has been shown that the use of preparations containing betulin, due to its anti-inflammatory and antibacterial properties, can be helpful in eliminating skin damage caused by EB [16,41].…”

Section: Use Of Betulin and Betulinic Acid In The Treatment Of Skin D...mentioning

confidence: 99%

Betulin – application in dermatology and cosmetology

Pielok¹,

Grymel²

2023

Aesth Cosmetol Med

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Betulin (BN) is a natural lupane-type triterpene extracted from many plant species. Its main source is the outer bark layer of birch trees of the Betulaceae family. BN exhibits a number of biological properties, including anti-inflammatory, antioxidant, anticancer and bacteriostatic effects. The article aimed to present the biological properties of BN and its plausible use in cosmetology and dermatology. BN and its derivatives have significant therapeutic potential, which opens wide possibilities for their use in the treatment of various skin diseases.

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“…Occasionally EBS can have a fatal outcome. The onset of EBS varies based on its subtype, typically manifesting at birth or during infancy ( 3 ). For accurate classification of EBS, it is imperative to consider the specific clinical features alongside molecular findings.…”

Section: Introductionmentioning

confidence: 99%

Identification of novel KRT5 gene variants in two Chinese patients with sporadic form of epidermolysis bullosa simplex: A case report

Liu,

Lu,

Luo

et al. 2024

Exp Ther Med

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Epidermolysis bullosa simplex (EBS), a rare genetic disorder characterized by fragile skin that is prone to blistering and tearing, is primarily caused by mutations in genes encoding keratin proteins, such as KRT5 and KRT14 . This study aimed to identify the pathogenic gene variants responsible for the sporadic form of EBS in two Chinese patients. Blood samples were collected from patients and their parents, and next-generation sequencing (NGS) was performed for variant screening. Two novel gene variants were identified within the KRT5 gene: c.1399A>T (p.Ile467Phe) in patient 1 and c.1412G>A (p.Arg471His) in patient 2. These variants were absent in the unaffected parents and a control group of 100 healthy individuals. These two novel gene variants within the KRT5 gene may be responsible for EBS, thus improving understanding of the genetic basis of EBS.

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Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity

Cited by 10 publications

References 133 publications

Recessive COL17A1 Mutations and a Dominant LAMB3 Mutation Cause Hypoplastic Amelogenesis Imperfecta

Recessive COL17A1 Mutations and a Dominant LAMB3 Mutation Cause Hypoplastic Amelogenesis Imperfecta

Betulin – application in dermatology and cosmetology

Identification of novel KRT5 gene variants in two Chinese patients with sporadic form of epidermolysis bullosa simplex: A case report

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