Presentation is loading. Please wait.

Presentation is loading. Please wait.

Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation  Akiko Tsubota,

Published byFedor Benko Modified over 5 years ago

Similar presentations

Presentation on theme: "Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation  Akiko Tsubota,"— Presentation transcript:

1 Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation  Akiko Tsubota, Masashi Akiyama, Jean Kanitakis, Kaori Sakai, Toshifumi Nomura, Alain Claudy, Hiroshi Shimizu  Journal of Investigative Dermatology  Volume 128, Issue 7, Pages (July 2008) DOI: /sj.jid Copyright © 2008 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 The patient's clinical features. (a and b) Clinical features at birth. (a) The patient showed generalized erythroderma and blisters. (b) Superficial erosions were seen on the neck and chest. (c and d) At the age of 3 years, the patient had verrucous, hyperkeratotic plaques, from light to dark brown in color, and superficial erosions on the chest, abdomen (c) and the back (d). (d, inset) A superficial denuded area in the hyperkeratotic skin (maserung phenomenon)-like erosion on the back. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2008 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Granular degeneration, clumped keratin filaments, and keratin expression patterns in the patient's epidermis. (a) Hyperkeratosis and granular degeneration with large keratohyalin granules were noted in the uppermost spinous and the granular layers of the patient's epidermis. Bar=50μm. (b) Electron microscopic examination of the superficial epidermal keratinocytes revealed a large number of keratin filament clumps (arrows) only in the uppermost spinous and granular layer cells. Inset: high-power view of a keratin clump. Bars=2.5μm (inset, 0.6μm). (c) Immunohistochemically, no staining is observed with an anti-K10 antibody, suggesting absence of K10 in the patient's epidermis. Bar=50μm. (d) K5/K6 brown labeling is observed in the whole epidermis of the patient's skin, with a maximal intensity in the basal cell layer. Bar=50μm. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2008 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 A homozygous dinucleotide substitution mutation c.1281_1282CC>AA in KRT10 was detected in the patient. (a) Direct sequencing of KRT10 exon 6 PCR products revealed that the patient was a homozygote for the dinucleotide substitution mutation c.1281_1282CC>AA, whereas both her parents were heterozygous for the same mutation. (b) Mutant allele-specific amplification (MASA) analysis. With normal allele-specific primers, no amplification band was seen in the PCR product from the patient's DNA samples, suggesting that she had no normal allele. With mutant allele-specific primers, the amplification band from the mutant alleles was detected as a 197bp fragment only in the PCR product from the DNA sample from the patient, but not in the PCR product from control DNA samples, confirming the presence of the mutation c.1281_1282CC>AA in the patient. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2008 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 The truncation mutation sites of K10 in the recessive form of BCIE. The nonsense mutation detected in the present family is marked with red characters. The other, previously reported nonsense mutation in exon 6 lead to mRNA decay (Müller et al., 2006). By the present mutation, the downstream domain (from the dotted line) was not translated, probably resulting in mRNA decay, because the present mutation was upstream of the previous mutation in the same exon 6 (Lejeune and Maquat, 2005). Red areas: helix initiation or termination motif. Journal of Investigative Dermatology  , DOI: ( /sj.jid ) Copyright © 2008 The Society for Investigative Dermatology, Inc Terms and Conditions

Download ppt "Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation  Akiko Tsubota,"

Similar presentations

Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation  Rinko Osawa, MD, Masashi.

Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation  Rinko Osawa, MD, Masashi.
Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 
Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations  Michihiro Kono, Fumihiro Matsumoto,

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations  Michihiro Kono, Fumihiro Matsumoto,
DNA-based prenatal exclusion of harlequin ichthyosis

DNA-based prenatal exclusion of harlequin ichthyosis
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis  Toshifumi Nomura, MD, Aileen Sandilands, PhD,

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis  Toshifumi Nomura, MD, Aileen Sandilands, PhD,
A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.
Transient Bullous Dermolysis of the Newborn Associated with Compound Heterozygosity for Recessive and Dominant COL7A1 Mutations  Nadja Hammami-Hauasli,

Transient Bullous Dermolysis of the Newborn Associated with Compound Heterozygosity for Recessive and Dominant COL7A1 Mutations  Nadja Hammami-Hauasli,
Novel ABCA12 Mutations Identified in Two Cases of Non-Bullous Congenital Ichthyosiform Erythroderma Associated with Multiple Skin Malignant Neoplasia 

Novel ABCA12 Mutations Identified in Two Cases of Non-Bullous Congenital Ichthyosiform Erythroderma Associated with Multiple Skin Malignant Neoplasia 
Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz.

Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz.
A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline  Michihiro Kono,

A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline  Michihiro Kono,
Overexpression of Serpin Squamous Cell Carcinoma Antigens in Psoriatic Skin  Atsushi Takeda, Dousei Higuchi, Tadahito Takahashi, Masashi Ogo, Peter Baciu,

Overexpression of Serpin Squamous Cell Carcinoma Antigens in Psoriatic Skin  Atsushi Takeda, Dousei Higuchi, Tadahito Takahashi, Masashi Ogo, Peter Baciu,
Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome  Neil V. Whittock,

Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome  Neil V. Whittock,
Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)  Carrie S. Shemanko 

Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)  Carrie S. Shemanko 
Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 

Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 
Inflammatory Linear Verrucous Epidermal Nevus with a Postzygotic GJA1 Mutation Is a Mosaic Erythrokeratodermia Variabilis et Progressiva  Noriko Umegaki-Arao,

Inflammatory Linear Verrucous Epidermal Nevus with a Postzygotic GJA1 Mutation Is a Mosaic Erythrokeratodermia Variabilis et Progressiva  Noriko Umegaki-Arao,
A Novel Keratin 5 Mutation (K5V186L) in a Family with EBS-K: a Conservative Substitution Can Lead to Development of Different Disease Phenotypes  Mirjana.

A Novel Keratin 5 Mutation (K5V186L) in a Family with EBS-K: a Conservative Substitution Can Lead to Development of Different Disease Phenotypes  Mirjana.
Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy 
Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1  Shotaro Suzuki, Toshifumi Nomura, Toshinari Miyauchi, Masae Takeda,

Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1  Shotaro Suzuki, Toshifumi Nomura, Toshinari Miyauchi, Masae Takeda,

Similar presentations

Ads by Google