Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

Hassan Vahidnezhad; Leila Youssefian; Amir Hossein Saeidian; Andrew Touati; Soheila Sotoudeh; Maryam Abiri; Mohammadreza Barzegar; Nessa Aghazadeh; Hamidreza Mahmoudi; Sara Norouz-Zadeh; Mohammad Hamid; Mahla Zahabiyon; Hamideh Bagherian; Sirous Zeinali; Paolo Fortina; Jouni Uitto

doi:10.1016/j.jid.2017.07.830

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

J Invest Dermatol. 2017 Dec;137(12):2649-2652. doi: 10.1016/j.jid.2017.07.830. Epub 2017 Aug 19.

Authors

Hassan Vahidnezhad¹, Leila Youssefian², Amir Hossein Saeidian³, Andrew Touati⁴, Soheila Sotoudeh⁵, Maryam Abiri⁶, Mohammadreza Barzegar⁷, Nessa Aghazadeh⁸, Hamidreza Mahmoudi⁸, Sara Norouz-Zadeh⁹, Mohammad Hamid¹⁰, Mahla Zahabiyon³, Hamideh Bagherian¹¹, Sirous Zeinali¹², Paolo Fortina¹³, Jouni Uitto¹⁴

Affiliations

¹ Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
² Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
³ Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
⁴ Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Drexel University College of Medicine, Philadelphia, Pennsylvania, USA.
⁵ Department of Dermatology, Children's Medical Center, Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
⁶ Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Kawsar Human Genetics Research Center, Tehran, Iran.
⁷ Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
⁸ Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.
⁹ Kawsar Human Genetics Research Center, Tehran, Iran; Department of Biology, Islamic Azad University, Arsanjan Branch, Arsanjan, Iran.
¹⁰ Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
¹¹ Kawsar Human Genetics Research Center, Tehran, Iran.
¹² Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran; Kawsar Human Genetics Research Center, Tehran, Iran.
¹³ Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Department of Molecular Medicine, Sapienza University, Rome, Italy.
¹⁴ Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address: Jouni.Uitto@Jefferson.edu.

PMID: 28830826
DOI: 10.1016/j.jid.2017.07.830

No abstract available

Publication types

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

MeSH terms

Epidermolysis Bullosa / classification*
Epidermolysis Bullosa / genetics*
Epidermolysis Bullosa / physiopathology
Female
Genetic Predisposition to Disease / epidemiology*
High-Throughput Nucleotide Sequencing / methods*
Humans
Male
Mutation / genetics
Pedigree
Prognosis
Sampling Studies
Severity of Illness Index