Molecular Heterogeneity of Epidermolysis Bullosa Simplex: Contribution of EXPH5 Mutations Manuela Pigors, Agnes Schwieger-Briel, Juna Leppert, Dimitra.

Slides:

Advertisements

Similar presentations

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy

Advertisements

The Missense Mutation p

Cristina Has, Yinghong He Journal of Investigative Dermatology

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex John Y.W. Lee, Lu Liu, Chao-Kai Hsu, Sophia Aristodemou, Linda.

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.

Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules Iana Turcan, Anna M.G.

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex John Y.W. Lee, Lu Liu, Chao-Kai Hsu, Sophia Aristodemou, Linda.

Transient Bullous Dermolysis of the Newborn Associated with Compound Heterozygosity for Recessive and Dominant COL7A1 Mutations Nadja Hammami-Hauasli,

Next-Generation Sequencing: Methodology and Application

Deletion of the Major Bullous Pemphigoid Epitope Region of Collagen XVII Induces Blistering, Autoimmunization, and Itching in Mice Tiina Hurskainen,

Epidermolysis Bullosa Acquisita Develops in Dominant Dystrophic Epidermolysis Bullosa Ryota Hayashi, Ken Natsuga, Mika Watanabe, Hiroaki Iwata, Satoru.

Atsunari Tsuchisaka, Minao Furumura, Takashi Hashimoto

Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki.

Leena Bruckner-Tuderman, Cristina Has

Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility Yinghong He, Kristin Maier, Juna Leppert, Ingrid Hausser, Agnes.

Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto

Marcel F. Jonkman, Anna M. G. Pasmooij, Suzanne G. M. A

Clinical Snippets Journal of Investigative Dermatology

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy

TGM5 Mutations Impact Epidermal Differentiation in Acral Peeling Skin Syndrome Manuela Pigors, Dimitra Kiritsi, Cristina Cobzaru, Agnes Schwieger-Briel,

Kavitha K. Reddy Journal of Investigative Dermatology

Novel SLC39A4 Mutations in Acrodermatitis Enteropathica

Databases for Clinical Research

Novel Homozygous and Compound Heterozygous COL17A1 Mutations Associated with Junctional Epidermolysis Bullosa Michaela Floeth, Heike Schäcke, Nadja Hammami-Hauasli,

Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015 Jouni Uitto, Leena Bruckner-Tuderman,

Acral Peeling Skin Syndrome with TGM5 Gene Mutations May Resemble Epidermolysis Bullosa Simplex in Young Individuals Dimitra Kiritsi, Ioana Cosgarea,

Generalized Pustular Psoriasis Triggered by Amoxicillin in Monozygotic Twins with Compound Heterozygous IL36RN Mutations: Comment on the Article by Navarini.

Identification of Novel and Known Mutations in the Genes for Keratin 5 and 14 in Danish Patients with Epidermolysis Bullosa Simplex: Correlation Between.

Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa Johanna Hammersen,

A New Case of Keratin 14 Functional Knockout Causes Severe Recessive EBS and Questions the Haploinsufficiency Model of Naegeli–Franceschetti–Jadassohn.

Marieke C. Bolling, Jan D. H. Jongbloed, Ludolf G. Boven, Gilles F. H

Michaela Floeth, Leena Bruckner-Tuderman

Francois le Pelletier, Anne Janin Journal of Investigative Dermatology

Compound Heterozygous TGM1 Mutations Including a Novel Missense Mutation L204Q in a Mild Form of Lamellar Ichthyosis Masashi Akiyama, Itsuro Matsuo

Leena Bruckner-Tuderman, John A. McGrath, E

Deletion of the Cytoplasmatic Domain of BP180/Collagen XVII Causes a Phenotype with Predominant Features of Epidermolysis Bullosa Simplex Marcel Huber,

Clinical Snippets Journal of Investigative Dermatology

Minutes of the Board of Directors Meeting

A Gain-of-Function Mutation in TRPV3 Causes Focal Palmoplantar Keratoderma in a Chinese Family Yuqing He, Kang Zeng, Xibao Zhang, Qiaolin Chen, Jiang.

Epidermolysis Bullosa Simplex Ogna Revisited

Journal of Investigative Dermatology

A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases Nadja Chmel, Sorina Danescu, Amelie Gruler, Dimitra.

Society for Investigative Dermatology 2010 Meeting Minutes

Journal of Investigative Dermatology

Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome Neil V. Whittock, Hong Wan,

Maria T. García-Romero, Roberto Arenas

BJD Editor's Choice Journal of Investigative Dermatology

A New Mouse Model of Junctional Epidermolysis Bullosa: The LAMB3 628G>A Knockin Mouse Johanna Hammersen, Jin Hou, Stephanie Wünsche, Sven Brenner, Thomas.

Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5

Disruption of ERBB2IP Is not Associated with Dystrophic Epidermolysis Bullosa in Both Father and Son Carrying a Balanced 5;13 Translocation Margarita.

Research Snippets Journal of Investigative Dermatology

Clinical Snippets Journal of Investigative Dermatology

Journal of Investigative Dermatology

A Usual Frameshift and Delayed Termination Codon Mutation in Keratin 5 Causes a Novel Type of Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Complete Maternal Isodisomy of Chromosome 3 in a Child with Recessive Dystrophic Epidermolysis Bullosa but No Other Phenotypic Abnormalities Hiva Fassihi,

Genotype–Phenotype Correlation in Recessive Dystrophic Epidermolysis Bullosa: When Missense Doesn't Make Sense Vesarat Wessagowit, Soo-Chan Kim, Se Woong.

Journal of Investigative Dermatology

Recurrent Mutations in Kindlin-1, a Novel Keratinocyte Focal Contact Protein, in the Autosomal Recessive Skin Fragility and Photosensitivity Disorder,

Journal of Investigative Dermatology

Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa Yinghong He,

Frances J.D. Smith, W.H. Irwin McLean

Dedee F. Murrell, Niken Trisnowati, Spiros Miyakis, Amy S. Paller

Neil V. Whittock, Frances J. Smith, W.H. Irwin McLean

Madison R. Mack, Gwen Wendelschafer-Crabb, Brian D. McAdams, Maria K

Journal of Investigative Dermatology

Novel Keratin 14 Mutations in Patients with Severe Recessive Epidermolysis Bullosa Simplex Cristina Has, Yow-Ren Chang, Andreas Volz, Doris Hoeping,

Journal of Investigative Dermatology

Epidermolysis Bullosa: The Expanding Mutation Database

Marcel F. Jonkman, Prof. Dr, Hendri H

Novel Mutations in the LAMB3 Gene Shared by Two Japanese Unrelated Families with Herlitz Junctional Epidermolysis Bullosa, and Their Application for Prenatal.

Presentation transcript:

Molecular Heterogeneity of Epidermolysis Bullosa Simplex: Contribution of EXPH5 Mutations Manuela Pigors, Agnes Schwieger-Briel, Juna Leppert, Dimitra Kiritsi, Jürgen Kohlhase, Leena Bruckner-Tuderman, Cristina Has Journal of Investigative Dermatology Volume 134, Issue 3, Pages 842-845 (March 2014) DOI: 10.1038/jid.2013.373 Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical findings of exophilin-5 (EXPH5)-associated epidermolysis bullosa simplex. (a) Pedigree with the index patient indicated by a black circle. (b) At birth, the index patient presented with large erosions, in particular, on the legs. (c and d) Between 6 (c) and 15 (d) months of age, the main clinical features encompassed small blisters and erosions (arrows) as well as linear and hemorrhagic crusts (arrowheads) on the extremities. Journal of Investigative Dermatology 2014 134, 842-845DOI: (10.1038/jid.2013.373) Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Exophilin-5 (EXPH5) mutations lead to cleavage within the basal layer of the epidermis. (a) Two EXPH5 frame-shift mutations, c.1395delC and c.2897delC (arrows), were disclosed in the patient. (b) Schematic representation of the EXPH5 gene. Blue boxes represent the exons. The variants, indicated in red, are located in exon 6. The previously identified variant is shown in black (McGrath et al., 2012). (c) Immunofluorescence staining of keratin-14 showed several splits in the basal layer of the epidermis (asterisks). Scale bar=20 μm. (d) Histopathological analysis revealed discrete hyperkeratosis and macro (left panel) and micro blisters (right panel) along the dermal–epidermal junction. Scale bar=50 μm. Journal of Investigative Dermatology 2014 134, 842-845DOI: (10.1038/jid.2013.373) Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions