Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa

Author:

Bergson Shir12,Daniely Daniel1,Bomze David1,Mohamad Janan12,Malovitski Kiril12,Meijers Odile1,Briskin Valeria1,Bihari Ofer1,Malchin Natalia1,Israeli Shirli1,Mashiah Jacob12ORCID,Falik‐Zaccai Tzipora34,Avitan‐Hersh Emily56,Eskin‐Schwartz Marina78,Allon‐Shalev Stavit69,Sarig Ofer1,Sprecher Eli12ORCID,Samuelov Liat12ORCID

Affiliation:

1. Division of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv Israel

2. Faculty of Medicine Tel Aviv University Tel Aviv Israel

3. Institute of Human Genetics, Galilee Medical Center Nahariya Israel

4. The Azrieli Faculty of Medicine Bar Ilan University Safed Israel

5. Department of Dermatology Rambam Health Care Campus Haifa Israel

6. Bruce and Ruth Rappaport Faculty of Medicine Haifa Israel

7. Faculty of Health Sciences Ben‐Gurion University of the Negev Beer‐Sheva Israel

8. Genetics Institute, Soroka University Medical Center Beer‐Sheva Israel

9. The Genetic Institute, Emek Medical Center Afula Israel

Abstract

AbstractBackgroundEpidermolysis bullosa (EB) features skin and mucosal fragility due to pathogenic variants in genes encoding components of the cutaneous basement membrane. Based on the level of separation within the dermal‐epidermal junction, EB is sub‐classified into four major types including EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB) with 16 EB‐associated genes reported to date.MethodsWe ascertained a cohort of 151 EB patients of various Middle Eastern ethnic backgrounds.ResultsThe cohort was comprised of EBS (64%, 97/151), DEB (21%, 31/151), JEB (12%, 18/151), and KEB (3%, 5/151). KRT14 and KRT5 variants were most common among EBS patients with 43% (42/97) and 46% (45/97) of EBS patients carrying mutations in either of these two genes, respectively. Truncal involvement was more common in KRT14‐associated EBS as compared to EBS due to KRT5 mutations (p < .05). Mutations in COL17A1 and laminin 332‐encoding genes were identified in 55% (10/18) and 45% (8/18) of JEB patients. Scarring alopecia, caries, and EB nevi were most common among JEB patients carrying COL17A1 mutations as compared to laminin 332‐associated JEB (p < .05). Abnormal nails were evident in most DEB and JEB patients while poikiloderma was exclusively observed in KEB (p < .001).ConclusionsEB patients of Middle Eastern origin were found to feature specific phenotype–genotype correlations of relevance to the diagnosis and genetic counseling of patients in this region.

Funder

Israel Science Foundation

Ministry of Science and Technology, Israel

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

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