Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy

Agnes Schwieger-Briel; Ignacia Fuentes; Daniele Castiglia; Antonio Barbato; Matthias Greutmann; Juna Leppert; Sabine Duchatelet; Alain Hovnanian; Sofia Burattini; M Joao Yubero; Rodrigo Ibañez-Arenas; Boris Rebolledo-Jaramillo; Christoph Gräni; Hagen Ott; Martin Theiler; Lisa Weibel; Amy S Paller; Giovanna Zambruno; Judith Fischer; Francis Palisson; Cristina Has

doi:10.1016/j.jid.2018.07.022

Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy

J Invest Dermatol. 2019 Jan;139(1):244-249. doi: 10.1016/j.jid.2018.07.022. Epub 2018 Aug 16.

Authors

Agnes Schwieger-Briel¹, Ignacia Fuentes², Daniele Castiglia³, Antonio Barbato⁴, Matthias Greutmann⁵, Juna Leppert⁶, Sabine Duchatelet⁷, Alain Hovnanian⁷, Sofia Burattini⁸, M Joao Yubero⁹, Rodrigo Ibañez-Arenas¹⁰, Boris Rebolledo-Jaramillo¹¹, Christoph Gräni¹², Hagen Ott¹³, Martin Theiler¹⁴, Lisa Weibel¹⁴, Amy S Paller¹⁵, Giovanna Zambruno³, Judith Fischer¹⁶, Francis Palisson¹⁷, Cristina Has¹⁸

Affiliations

¹ Department of Pediatric Dermatology, University Children's Hospital Zurich, Zurich, Switzerland; Epidermolysis bullosa Centre, Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. Electronic address: [email protected].
² Fundación DEBRA Chile, Santiago, Chile; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
³ Istituto Dermopatico dell'Immacolata, IRCCS, Rome, Italy.
⁴ Emergency Medicine and Hypertension Unit, Department of Clinical Medicine and Surgery, Federico II University Medical School, Naples, Italy.
⁵ Department of Cardiology, University Hospital Zurich, Zurich, Switzerland.
⁶ Epidermolysis bullosa Centre, Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
⁷ INSERM, Laboratory of Genetic Skin Diseases, Imagine Institute and Paris Descartes University, Paris, France.
⁸ Fundación DEBRA Chile, Santiago, Chile.
⁹ Fundación DEBRA Chile, Santiago, Chile; Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
¹⁰ Fundación DEBRA Chile, Santiago, Chile; Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile; Department of Cardiology, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
¹¹ Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
¹² Department of Nuclear Medicine, Cardiac Imaging, University Hospital Zurich, Zurich, Switzerland.
¹³ Division of Pediatric Dermatology and Allergology, Children's Hospital Auf der Bult, Hanover, Germany.
¹⁴ Department of Pediatric Dermatology, University Children's Hospital Zurich, Zurich, Switzerland; Department of Dermatology, University Hospital Zurich, Zurich, Switzerland.
¹⁵ Departments of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
¹⁶ Department of Human Genetics, Medical Center-University of Freiburg, Germany.
¹⁷ Fundación DEBRA Chile, Santiago, Chile; Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile; Dermatology Department, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
¹⁸ Epidermolysis bullosa Centre, Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. Electronic address: [email protected].

PMID: 30120936
DOI: 10.1016/j.jid.2018.07.022

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Cardiomyopathy, Dilated / etiology*
Cardiomyopathy, Dilated / genetics
Child
DNA / genetics*
DNA Mutational Analysis
Epidermolysis Bullosa Simplex / complications
Epidermolysis Bullosa Simplex / genetics*
Epidermolysis Bullosa Simplex / metabolism
Female
Humans
Male
Middle Aged
Mutation*
Pedigree
Repressor Proteins / genetics*
Repressor Proteins / metabolism
Young Adult

Substances

KLHL24 protein, human
Repressor Proteins
DNA