Presentation is loading. Please wait.

Presentation is loading. Please wait.

Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)  Carrie S. Shemanko 

Published byHandoko Oesman Modified over 5 years ago

Similar presentations

Presentation on theme: "Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)  Carrie S. Shemanko "— Presentation transcript:

1 Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)  Carrie S. Shemanko  Journal of Investigative Dermatology  Volume 111, Issue 5, Pages (November 1998) DOI: /j x Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Hyperkeratosis of the palm. The patient demonstrates marked palmar hyperkeratosis despite previous long-term oral corticosteroid treatment and surgical excision of hyperkeratotic skin. Photograph taken at age 38 y. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Severe keratin intermediate filament disruption in epidermis. Electron microscopy of clinically uninvolved skin from the upper arm reveals keratin intermediate filament disruption. Keratin intermediate filaments (tonofilaments) show clumping (arrows) beneath the nucleus (N) of a basal epidermal cell with evidence of early cytolysis (*), confirming a diagnosis of EBS-DM. Scale bar: 1 μm. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 An automated sequence chromatograph. Sequence chromatographs generated from the cycle sequencing of the KRT14 gene with a sense primer show (A) the heterozygous change from a T to a C in the second position of codon 119 (K14M119T) versus (B) the control sequence. Both individuals show a homozygous polymorphic variation of a G to a A in the third position of codon 120 that does not alter the amino acid glutamine. Nucleotides identifying the signal peaks are indicated directly above the peaks and the corresponding amino acid above the first letter of the codon. The altered nucleotide and amino acid are above the respective normal sequence. The standard one letter abbreviation for the amino acid is given. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 Restriction digest to demonstrate association of the mutation with the EBS-phenotype. The 264 bp polymerase chain reaction-generated fragment (lane 12) was excised by Nla III to produce two fragments sized 181 bp and 83 bp if the site at this codon was normal (lanes 1–10). The mutation knocked out the recognition site resulting in an uncut fragment of 264 bp in one allele of the patient DNA (lane 11). Products were analyzed on a 4% NuSieve agarose TBE gel. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Download ppt "Severe Palmo-Plantar Hyperkeratosis in Dowling–Meara Epidermolysis Bullosa Simplex Caused by a Mutation in the Keratin 14 Gene (KRT14)  Carrie S. Shemanko "

Similar presentations

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 
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.
Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency  Aoi Nakano, Ellen Pfendner,

Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency  Aoi Nakano, Ellen Pfendner,
Abraham Zlotogorski  Journal of Investigative Dermatology 

Abraham Zlotogorski  Journal of Investigative Dermatology 
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.
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,
Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 

Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 
Natural Gene Therapy May Occur in All Patients with Generalized Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutations  Anna M.G. Pasmooij,

Natural Gene Therapy May Occur in All Patients with Generalized Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutations  Anna M.G. Pasmooij,
Anna M. G. Pasmooij, Hendri H. Pas, Franciska C. L

Anna M. G. Pasmooij, Hendri H. Pas, Franciska C. L
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.
Marcel F. Jonkman, Anna M. G. Pasmooij, Suzanne G. M. A

Marcel F. Jonkman, Anna M. G. Pasmooij, Suzanne G. M. A
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 
Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation  Akiko Tsubota,

Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation  Akiko Tsubota,
Analysis of Rare APC Variants at the mRNA Level

Analysis of Rare APC Variants at the mRNA Level
Anna M. G. Pasmooij, Hendri H. Pas, Franciska C. L

Anna M. G. Pasmooij, Hendri H. Pas, Franciska C. L
Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis 

Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis 
Novel Homozygous and Compound Heterozygous COL17A1 Mutations Associated with Junctional Epidermolysis Bullosa  Michaela Floeth, Heike Schäcke, Nadja Hammami-Hauasli,

Novel Homozygous and Compound Heterozygous COL17A1 Mutations Associated with Junctional Epidermolysis Bullosa  Michaela Floeth, Heike Schäcke, Nadja Hammami-Hauasli,
Volume 60, Issue 5, Pages (November 2001)

Volume 60, Issue 5, Pages (November 2001)
Clinical, Cellular, and Molecular Features of an Israeli Xeroderma Pigmentosum Family with a Frameshift Mutation in the XPC Gene: Sun Protection Prolongs.

Clinical, Cellular, and Molecular Features of an Israeli Xeroderma Pigmentosum Family with a Frameshift Mutation in the XPC Gene: Sun Protection Prolongs.
Cycloheximide Facilitates the Identification of Aberrant Transcripts Resulting from a Novel Splice-Site Mutation in COL17A1 in a Patient with Generalized.

Cycloheximide Facilitates the Identification of Aberrant Transcripts Resulting from a Novel Splice-Site Mutation in COL17A1 in a Patient with Generalized.

Similar presentations

Ads by Google