Epidermolysis Bullosa Simplex in Israel

Ciubotaru, Dan; Bergman, Reuven; Baty, D.; Indelman, Margarita; Pfendner, Ellen G; Petronius, Danny; Moualem, Hannah; Kanaan, Moien; Amitai, Danny Ben; McLean, W.H. Irwin; Uitto, Jouni; Sprecher, Eli

doi:10.1001/archderm.139.4.498

Cited by 56 publications

(74 citation statements)

References 47 publications

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“…To date, mutational analyses of KRT5 and KRT14 have been published only for certain ethnic groups in Western countries [9][10][11][12][13][14] and Japan, in which two Korean cases were also included [15]. Here, we present fifteen cases of novel and recurrent mutations in Korean EBS patients.…”

Section: Discussionmentioning

confidence: 99%

“…Although many mutations in EBS have been reported in Western countries and Japan [9][10][11][12][13][14][15], a large scale mutational analysis in Korean patients with EBS has not yet been conducted. To identify additional EBS mutations for genotype and phenotype correlation in Korean patients, we performed mutational analysis of 15 EBS patients of Korean origin by sequence analysis of the entire coding regions of the KRT5 and KRT14 genes.…”

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confidence: 99%

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Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex

Kang

Lee

Kim

et al. 2010

Journal of Dermatological Science

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex

Kang

Lee

Kim

et al. 2010

Journal of Dermatological Science

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“…In most cases homozygous mutations lead to premature termination codons, instability of mRNA, and loss of keratin K14 expression Rugg et al, 1994]; however, recessive missense mutations have been found in K5 and K14 [Hovnanian et al, 1993;Yasukawa et al, 2002;Ciubotaru et al, 2003]. Surprisingly recessive EBS patients exhibit a wide range of phenotypes from very severe to relatively mild blistering.…”

Section: Disorders Of K5 and K14mentioning

confidence: 99%

The keratins and their disorders

Rugg

Leigh

2004

American J of Med Genetics Pt C

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Diseases caused by mutations in gene encoding keratin intermediate filaments (IF) are characterized by a loss of structural integrity in the cells expressing those keratins in vivo. This is manifested as cell fragility, compensatory epidermal hyperkeratosis, and keratin filament aggregation in some affected tissues. Keratin disorders are a novel molecular category including quite different phenotypes such as epidermolysis bullosa simplex (EBS), bullous congenital ichthyosiform erthroderma (BCIE), pachyonychia congenital (PC), steatocystoma multiplex, ichthyosis bullosa of Siemens (IBS), and white sponge nevus (WSN) of the orogenital mucosa.

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“…These data imply that mutational search strategies and mutational databases developed in European and/or US populations may not be useful in genetically homogeneous populations such as those found in the Middle East region, which have over the years generated their own pool of specific genetic alterations. Over the past years, we have obtained evidence supporting this concept in skin disorders such as different forms of inherited epidermolysis bullosa [18,19,20]. …”

Section: Introductionmentioning

confidence: 99%

Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome

et al. 2014

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Background: Comèl-Netherton syndrome is a rare congenital autosomal recessive disorder characterized by congenital ichthyosis, hair shaft abnormalities and atopic diathesis. It is caused by mutations in SPINK5, which encodes the serine protease inhibitor LEKTI. Objectives: To delineate the spectrum of mutations carried by a series of Israeli patients in an attempt to establish an effective diagnostic strategy for this disease in Israel. Methods: Mutations were identified by direct sequencing of the entire coding sequence of SPINK5 and confirmed using polymerase chain reaction-restriction fragment length polymorphism. Results: Three mutations were identified in seven families, of which two were novel. All mutations were predicted to result in premature termination of protein translation. Conclusions: This report presents the first case series of patients affected with Comèl-Netherton syndrome in Israel and suggests that some mutations reoccur in a substantial portion of cases in our country, a fact that should be taken into consideration when designing molecular analysis in new cases.

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Epidermolysis Bullosa Simplex in Israel

Cited by 56 publications

References 47 publications

Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex

Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex

The keratins and their disorders

Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome

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