A keratin K5 mutation (Leu 463→Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex

Nomura, Kazuo; Umeki, Kaoru; Meng, Xianmin; Tamai, Katsuto; Sawamura, Daisuke; Hosokawa, Masanori; Miyazawa, Tomonori; Funayama, Manabu; Hashimoto, Isao

doi:10.1007/s004030050228

Cited by 5 publications

(5 citation statements)

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“…A recent report revealed EBS types in Israel that have a unique mutation spectrum and different patterns of inheritance including a high incidence of recessive cases compared with European or U.S.A. associated families. 13 Six Japanese EBS mutations have been previously reported, [14][15][16][17][18][19] which are not enough to reveal the full extent of the mutation spectrum. To assess the possibility that EBS may present with certain specific features in Japanese and Koreans, which also comprise a closed ethnic group, 17 Japanese and two Korean patients with EBS were examined in this study.…”

Section: Discussionmentioning

confidence: 99%

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases

Yasukawa

Sawamura

Goto

et al. 2006

British Journal of Dermatology

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Section: Discussionmentioning

confidence: 99%

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases

Yasukawa

Sawamura

Goto

et al. 2006

British Journal of Dermatology

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“…EBS‐WC mutations are often restricted to non‐helix regions of the keratin polypeptide, namely the H1 domain and L12 linker region (32, 43‐51). However, mutations located within highly conserved regions of keratin have also been reported in EBS‐WC type (8, 11, 37, 47, 52, 53). In EBS‐KB cases, mutations on the non‐polar residues seem to be frequent.…”

Section: Discussionmentioning

confidence: 99%

A Novel Nonsense Mutation at E106 of the 2B Rod Domain of Keratin 14 Causes Dominant Epidermolysis Bullosa Simplex

Ichiki

Sato

et al. 2002

The Journal of Dermatology

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Epidermolysis bullosa simplex (EBS) is classified into three main types and is caused, in most cases, by missense mutations in the genes encoding keratin (K) 5 and K14. In this study, we clinically, ultrastructurally, immunohistochemically, and molecularly studied a patient with a dominant EBS, Köbner type. Using sequence analysis of genomic DNA, a novel K14 nonsense mutation was identified. A heterozygous mutation G1231T of KRT14 was found to be associated with the disease in the patient. The mutation created a premature stop codon (amino acid codon 411, residue 106 of the 2B helix) in the K14 molecule. This residue lies in a highly conserved region and was recently found to be absolutely required for molecular stability and intermediate filament assembly in K5 and K14. The E411X (E106X) heterozygous ablation, missing the last 16 amino acid residues of the 2B and the entire tail domain of K14, led to disease but did not result in clumping of keratin filaments. It is the first premature stop codon mutation of K14 found in dominant EBS.

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“…Recent investigations disclosed that the relationship between types of genomic mutation and clinical phenotypes is not definitive but very complex, and similar genomic mutations can show different subtypes of EBS (Hut et al, 2000). For example, the identical L463P mutation in K5 was demonstrated in subtypes of Weber-Cockayne (Nomura et al, 1997) and Koebner (Dong et al, 1992) in EBS. The mutations in V2 domain of a keratin family are usually small insertions/deletions leading to frameshift, which results in translation of an aberrant tail peptide (Sprecher et al, 2001;Whittock et al, 2002;Gu et al, 2003;Sprecher et al, 2003).…”

Section: Figurementioning

confidence: 97%

Clinical Heterogeneity of 1649delG Mutation in the Tail Domain of Keratin 5: A Japanese Family with Epidermolysis Bullosa Simplex with Mottled Pigmentation

Horiguchi¹,

Sawamura²,

Mori³

et al. 2005

Journal of Investigative Dermatology

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Twenty-five- and 22-y-old Japanese women, who are cousins, presented with distal skin fragility, widespread small, pigmented macules, and toenail deformity. Blisters occurred between the epidermis and the dermis with degeneration of the basal cells, suggesting epidermolysis bullosa simplex with mottled pigmentation (EBS-MP). Electron microscopy of the pigmented spots demonstrated vacuolization of basal cells as well as disturbed junctional structures and incontinence of pigmentation. Gene analysis resulted in detection of a heterozygous deletion of a guanine nucleotide in exon 9 at position 1649. P25L mutation was not detected in either case. It is possible that EBS-MP occurs not only based on the P25L mutation of the keratin 5 molecule, but also because of other types of mutations of epidermal keratin genes.

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A keratin K5 mutation (Leu 463→Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex

Cited by 5 publications

References 10 publications

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases

A Novel Nonsense Mutation at E106 of the 2B Rod Domain of Keratin 14 Causes Dominant Epidermolysis Bullosa Simplex

Clinical Heterogeneity of 1649delG Mutation in the Tail Domain of Keratin 5: A Japanese Family with Epidermolysis Bullosa Simplex with Mottled Pigmentation

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