University of Groningen
Epidermolysis bullosa simplexBolling, Maria Caroline
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Epidermolysis bullosa simplex
New insights in desmosomal cardiocutaneous syndrome
Marieke Bolling, 2010
Copyright © 2010 by M.C. Bolling, Groningen, The Netherlands
Cover design: Marten Faber, www.bens.nl
Page lay-out: Proefschriftmaken.nl
Printed by: Boxpress BV, Oisterwijk
Financial support for the publication of this thesis was provided by:
ABBOTT BV; Afdeling Dermatologie Groningen; Astellas Pharma Inc; Fagron BV; Galderma;
GlaxoSmithKline; Graduate School of Medicine Groningen; Janssen-Cilag BV; LEO Pharma
BV; Louis Widmer Nederland; Medeco; Medizorg; Mölnycke Healthcare BV; Novartis Pharma
BV; Roche; Schering-Plough; Stichting Studiefonds Dermatologie; University of Groningen
(Rijksuniversiteit Groningen); Universitair Medisch Centrum Groningen (UMCG); Wyeth.
The financial support by the J.P. Nater Foundation and Stichting Vlinderkind (www.vlinderkind.nl)
for part of the research described in this thesis is gratefully acknowledged.
Epidermolysis bullosa simplex
New insights in
desmosomal cardiocutaneous syndromes
Proefschrift
ter verkrijging van het doctoraat in de
Medische Wetenschappen
aan de Rijksuniversiteit Groningen
op gezag van de
Rector Magnificus, dr. F. Zwarts,
in het openbaar te verdedigen op
woensdag 21 april 2010
om 14.45 uur
door
Maria Caroline Bolling
geboren op 7 juni 1980
te Gouda
Promotor: Prof. dr. M.F. Jonkman
Beoordelingscommissie: Prof. dr. M.P. van den Berg
Prof. dr. W.H.I. McLean
Prof. dr. R.J. Sinke
ISBN: 978-90-8891-155-2
To the people in my heart
´I´ve got you under my skin,
Je t´ai dans ma peau´
Paranimfen: P.C. van den Akker
A.M.G. Pasmooij
7
Contents
List of abbreviations 9
Chapter 1 Introduction 13
Aim and outline of the thesis 37
Chapter 2 Mutations in KRT5 and KRT14 cause basal 57
epidermolysis bullosa simplex in 75% of the patients
Chapter 3 Plectin mutations in basal epidermolysis bullosa 81
simplex with wild-type KRT5 and KRT14 genes
Chapter 4 A novel mutation in the L12 domain of keratin 1 is 99
associated with mild epidermolytic ichthyosis
Chapter 5 Chromosomal microdeletion explains extracutaneous 111
features in a in a patient with the monogenic
genodermatosis Kindler syndrome
Chapter 6 Skin and heart: une liaison dangereuse 127
Chapter 7 PLEC1 mutations underlie adult-onset dilated 159
cardiomyopathy in epidermolysis bullosa simplex
with muscular dystrophy
Chapter 8 Lethal acantholytic epidermolysis bullosa simplex due 171
to a novel homozygous mutation in DSP:
expanding the phenotype and implications for
desmoplakin function in skin and heart
Chapter 9 Discussion and future perspectives 189
Summary 231
Nederlandse samenvatting (Dutch summary) 247
Dankwoord/Acknowledgements 267
List of publications 273
9
List of abbreviations
List of abbreviations
ABD actin-binding domain
aCGH array comparative genomic hybridisation
AD autosomal dominant
ARVC arrhythmogenic right ventricular cardiomyopathy
ALVC arrhythmogenic right ventricular cardiomyopathy
bp basepair
β4 β4 integrin subunit of integrin α6β4
BMZ basement membrane zone
cDNA coding DNA
Cx43 connexin-43
DCCS desmosomal cardio-cutaneous syndrome
DCM dilated cardiomyopathy
DDD Dowling-Degos Disease
DEB dystrophic epidermolysis bullosa
DNA deoxyribonucleic acid
DP desmoplakin
Dsc desmocollin
Dsg desmoglein
EB epidermolysis bullosa
EBS epidermolysis bullosa simplex
EBS-AR epidermolysis bullosa simplex autosomal recessive
EBS-DM epidermolysis bullosa simplex Dowling Meara
EBS-loc epidermolysis bullosa simplex localized
EBS-migr epidermolysis bullosa simplex with migratory circinate erythema
EBS-MP epidermolysis bullosa simplex with mottled pigmentation
ECG electrocardiogram
EI epidermolytic ichthyosis
EM electron microscopy
FA focal adhesion
FFH-1 fermitin family homologue-1
fs frameshift
gDNA genomic DNA
ICS intercellular substance
ID intercalated disc
IDP inner dense plaque
IF intermediate filament
10
List of abbreviations
JEB junctional epidermolysis bullosa
K1 keratin 1
K5 keratin 5
K10 keratin 10
K14 keratin 14
KS Kindler syndrome
LAEB lethal acantholytic epidermolysis bullosa
MD muscular dystrophy
NFJS Naegeli Franceschetti Jadassohn Syndrome
ODP outer dense plaque
OMIM Online Mendelian Inheritance in Man
PA pyloric atresia
PCR polymerase chain reaction
PG plakoglobin
PKP plakophilin
PPK palmoplantar keratoderma
PTC premature termination codon
PV pemphigus vulgaris
RNA ribonucleic acid
SF-EDS skin fragility - ectodermal dysplasia syndrome
SF-WH skin fragility - woolly hair syndrome
SNP single nucleotide polymorphism
SR spectrin-repeat
BP180 type XVII collagen
WPW Wolff Parkinson White syndrome
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