Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of <scp>KRT</scp>5

Kumagai, Yoshiya; Umegaki‐Arao, Noriko; Sasaki, Takashi; Nakamura, Yoshio; Takahashi, Hayato; Ashida, Atsuko; Tsunemi, Yuichiro; Kawashima, Makoto; Shimizu, Atsushi; Ishiko, Akira; Nakamura, Koichiro; Tsuchihashi, Hayato; Amagai, Masayuki; Kubo, Akiharu

doi:10.1111/jdv.14005

Cited by 4 publications

(7 citation statements)

References 10 publications

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“…In accordance with previous reports, [20][21][22] three out of four patients with c.1649delG in the tail domain of KRT5 showed EBS-MCE during infancy but EBS-MP in the later stages of the disease. Interestingly, we first observed one mother who presented as EBS-MP with c.1144-1176dup in the 2B domain of KRT14 for whom her daughter presented as EBS-MCE.…”

Section: Rare Subtype Of Ebssupporting

confidence: 93%

“…Interestingly, we first observed one mother who presented as EBS‐MP with c.1144‐1176dup in the 2B domain of KRT14 for whom her daughter presented as EBS‐MCE. In addition to the classic p.P25L variant in KRT5 , 14,20 EBS‐MP was also observed in one case with KRT5 p.L175P mutation (in the 1A domain) 14 and one with KRT14 c.1158_1159ins42 (in the 2B domain) variant (Figure 2c,d and Figure S1).…”

Section: Resultsmentioning

confidence: 87%

“…21 Four families presented with EBS-MCE and EBS-MP in the same family; this strongly suggested that EBS-MCE is the early of EBS-MP. 20 The two cases with mutations residing at the end of the KRT5 and KRT14 peptides presented as EBS-MCE during infancy, strongly suggesting that frameshifted peptides at the end contribute to the characteristic inflammatory phenotype. 20,21,36,37 Unlike previous reports, 8,9 JEB patients with biallelic PTC mutations in laminin 332 experienced only a 45.0% mortality rate, with an average survival of 11.1 months, which was higher than other studies (4.7 and 6.5 months).…”

Section: Discussionmentioning

confidence: 98%

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Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China

Chen

Wei

De-zhong

et al. 2022

Acad Dermatol Venereol

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Background Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic blistering disorders. Objectives The objective was to analyse the genotype–phenotype correlation in EB among Chinese individuals. Methods Next‐generation sequencing and Sanger sequencing were performed to genetically confirm clinically diagnosed EB. Reverse transcription‐PCR and splice‐site analysis were used to evaluate the consequences of splicing mutations. Results A total of 441 cases (413 families) across 11 genes were included. EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), Kindler EB, simplex and junctional compound EB accounted for 23.4%, 12.7%, 61.5%, 1.1% and 0.2%, respectively. In 16 probands with presumptive recessive EB, failed to find the second allele, COL7A1 (10), COL17A1 (4), LAMB3 (1) and ITGB4 (1). De novo mutations are common in dominant EB (63.8% in EBS, 27.5% in DEB) but extremely rare in recessive DEB (RDEB; 0.74%). Mosaicism is more common than presumed, with 5.4% of dominant EBS. In JEB, only 45.0% of patients with biallelic premature termination codon (PTC) mutations in laminin 332 genes died within 24 months, with a longer average survival age of 11.1 months. In JEB, unusual phenotypes are frequently observed, notably urinary tract involvement, duodenal atresia and EB nevi. In RDEB, 48.8% of cases with biallelic PTC mutations in COL7A1 exhibited a relatively mild phenotype; they are likely to develop a severe phenotype at 0–4 years old, and the PTC mutations position closer to the N‐terminal, leading to earlier onset. Glycine substitution mutations in DEB have complex genotypic and phenotypic heterogeneity. The rare subtype, dominant and recessive compound DEB, consists of 1.8% of the total DEB. Conclusions This study reveals the general rules governing genotype–phenotype correlations, rare phenotypes and complex genotypes. Collectively, mutation analysis in different forms of EB provides the basis for improved subclassification with accurate genetic counselling and for prenatal diagnosis.

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Section: Rare Subtype Of Ebssupporting

confidence: 93%

Section: Resultsmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 98%

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Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China

Chen

Wei

De-zhong

et al. 2022

Acad Dermatol Venereol

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“…Therefore, additional cases are required to elucidate the nature of the mutation in exon 2. The review of literature revealed frameshift mutations in exon 9 of keratin gene KRT5 (c.1649delG, c.1637del4, and c.1638_1641del‐CATG) specifically in patients with EBS‐Migr . More recently, heterozygous deletion mutation in exon 7 of KRT5 (c.1321_1332del12) was identified in a patient with EBS and childhood‐onset migratory circinate erythema .…”

Section: Discussionmentioning

confidence: 99%

A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

Yalıcı-Armağan

Kabacam

Taşkıran

et al. 2020

Pediatric Dermatology

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Epidermolysis bullosa simplex migratory circinate erythema (EBS‐Migr) is an uncommon subtype of EBS. We report a case of EBS‐MIGR with a novel heterozygous pathogenic mutation in exon 9 (frameshift deletion c.1650delC) and likely benign heterozygous mutation in exon 2 (missense c.591C > A) of keratin 5. This novel pathogenic mutation in KRT5 expands the molecular spectrum of this rare subtype of EBS.

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“…Lee et al identified a de novo in-frame 12-bp deletion in exon 7 of the KRT5 gene, which alters the 2B domain of keratin-5 [ 47 ]. Mutations in the keratin-5 tail domain have been related to EBS with unusual features, such as mottled pigmentation and pigmentary disorders, suggesting a possible role of this domain in the regulation of inflammation and pigmentation [ 48 , 49 ].…”

Section: Correlations Genotype–phenotypementioning

confidence: 99%

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

et al. 2022

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Epidermolysis bullosa is a heterogeneous group of rare genetic disorders characterized by mucocutaneous fragility and blister formation after minor friction or trauma. There are four major epidermolysis bullosa types based on the ultrastructural level of tissue cleavage: simplex, junctional, dystrophic, and Kindler epidermolysis bullosa. They are caused by mutations in genes that encode the proteins that are part of the hemidesmosomes and focal adhesion complex. Some of these disorders can be associated with extracutaneous manifestations, which are sometimes fatal. They are inherited in an autosomal recessive or autosomal dominant manner. This review is focused on the phenomena of heterogeneity (locus, allelic, mutational, and clinical) in epidermolysis bullosa, and on the correlation genotype–phenotype.

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Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5

Cited by 4 publications

References 10 publications

Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China

Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China

A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

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

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