Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

Emily Mira Warshauer; Adam Brown; Ignacia Fuentes; Jonathan Shortt; Chris Gignoux; Francesco Montinaro; Mait Metspalu; Leila Youssefian; Hassan Vahidnezhad; Joanna Jacków; Angela M. Christiano; Jouni Uitto; Óscar R. Fajardo-Ramírez; Julio C. Salas-Alanis; John A. McGrath; Liliana Consuegra; Carolina Rivera; Paul A. Maier; Goran Runfeldt; Doron M. Behar; Karl Skorecki; Eli Sprecher; Francis Palisson; David A. Norris; Anna L. Bruckner; Igor Kogut; Ganna Bilousova; Dennis R. Roop

doi:10.1002/ajmg.a.62456

Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

Emily Mira Warshauer, Adam Brown, Ignacia Fuentes, Jonathan Shortt, Chris Gignoux, Francesco Montinaro, Mait Metspalu, Leila Youssefian, Hassan Vahidnezhad, Joanna Jacków, Angela M. Christiano, Jouni Uitto, Óscar R. Fajardo-Ramírez, Julio C. Salas-Alanis, John A. McGrath, Liliana Consuegra, Carolina Rivera, Paul A. Maier, Goran Runfeldt, Doron M. BeharKarl Skorecki, Eli Sprecher, Francis Palisson, David A. Norris, Anna L. Bruckner, Igor Kogut, Ganna Bilousova, Dennis R. Roop

Bar-Ilan University - Azrieli Faculty of Medicine

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis caused by mutations in the gene coding for type VII collagen (COL7A1). More than 800 different pathogenic mutations in COL7A1 have been described to date; however, the ancestral origins of many of these mutations have not been precisely identified. In this study, 32 RDEB patient samples from the Southwestern United States, Mexico, Chile, and Colombia carrying common mutations in the COL7A1 gene were investigated to determine the origins of these mutations and the extent to which shared ancestry contributes to disease prevalence. The results demonstrate both shared European and American origins of RDEB mutations in distinct populations in the Americas and suggest the influence of Sephardic ancestry in at least some RDEB mutations of European origins. Knowledge of ancestry and relatedness among RDEB patient populations will be crucial for the development of future clinical trials and the advancement of novel therapeutics.

Original language	English
Pages (from-to)	3390-3400
Number of pages	11
Journal	American Journal of Medical Genetics, Part A
Volume	185
Issue number	11
DOIs	https://doi.org/10.1002/ajmg.a.62456
State	Published - Nov 2021

Bibliographical note

Publisher Copyright:
© 2021 Wiley Periodicals LLC.

Funding

We thank all the patients and their families for helping us to carry out this study. This study was supported by the Avotaynu Foundation, Epidermolysis Bullosa Research Partnership, Epidermolysis Bullosa Medical Research Foundation, Cure EB, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institute of Health (NIH) (R01AR059947 and U01AR075932), the Department of Defense (DOD) (W81XWH-18-1-0706), Dystrophic Epidermolysis Bullosa Research Association (DEBRA) International, and the Gates Frontiers Fund. We also want to give special thanks to Stephen Berman, MD, the Founding Director of the Epidermolysis Bullosa Center of Excellence at Children's Hospital Colorado, who has cared for Hispanic RDEB patients in Colorado for over three decades and originally suggested to us that these patients may be of Converso ancestry. We thank all the patients and their families for helping us to carry out this study. This study was supported by the Avotaynu Foundation, Epidermolysis Bullosa Research Partnership, Epidermolysis Bullosa Medical Research Foundation, Cure EB, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) of the National Institute of Health (NIH) (R01AR059947 and U01AR075932), the Department of Defense (DOD) (W81XWH‐18‐1‐0706), Dystrophic Epidermolysis Bullosa Research Association (DEBRA) International, and the Gates Frontiers Fund. We also want to give special thanks to Stephen Berman, MD, the Founding Director of the Epidermolysis Bullosa Center of Excellence at Children's Hospital Colorado, who has cared for Hispanic RDEB patients in Colorado for over three decades and originally suggested to us that these patients may be of Converso ancestry. Avotaynu Foundation; Cure EB; Dystrophic Epidermolysis Bullosa Research Assocation International; Epidermolysis Bullosa Medical Research Foundation; Epidermolysis Bullosa Research Partnership; Gates Frontiers Fund; National Institute of Arthritis and Musculoskeletal and Skin Diseases, Grant/Award Numbers: R01AR059947, U01AR075932; U.S. Department of Defense, Grant/Award Number: W81XWH‐18‐1‐0706 Funding information

Funders	Funder number
Avotaynu Foundation
Dystrophic Epidermolysis Bullosa Research Assocation International
Epidermolysis Bullosa Center of Excellence at Children's Hospital Colorado
Epidermolysis Bullosa Research Partnership
Gates Frontiers Fund
National Institutes of Health
U.S. Department of Defense	W81XWH‐18‐1‐0706
National Institute of Arthritis and Musculoskeletal and Skin Diseases	U01AR075932, R01AR059947
Epidermolysis Bullosa Medical Research Foundation
Dystrophic Epidermolysis Bullosa Research Association of America
Cure EB

Keywords

epidermolysis bullosa
genetics
genodermatoses

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10.1002/ajmg.a.62456

Cite this

Warshauer, E. M., Brown, A., Fuentes, I., Shortt, J., Gignoux, C., Montinaro, F., Metspalu, M., Youssefian, L., Vahidnezhad, H., Jacków, J., Christiano, A. M., Uitto, J., Fajardo-Ramírez, Ó. R., Salas-Alanis, J. C., McGrath, J. A., Consuegra, L., Rivera, C., Maier, P. A., Runfeldt, G., ... Roop, D. R. (2021). Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry. American Journal of Medical Genetics, Part A, 185(11), 3390-3400. https://doi.org/10.1002/ajmg.a.62456

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title = "Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry",

abstract = "Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis caused by mutations in the gene coding for type VII collagen (COL7A1). More than 800 different pathogenic mutations in COL7A1 have been described to date; however, the ancestral origins of many of these mutations have not been precisely identified. In this study, 32 RDEB patient samples from the Southwestern United States, Mexico, Chile, and Colombia carrying common mutations in the COL7A1 gene were investigated to determine the origins of these mutations and the extent to which shared ancestry contributes to disease prevalence. The results demonstrate both shared European and American origins of RDEB mutations in distinct populations in the Americas and suggest the influence of Sephardic ancestry in at least some RDEB mutations of European origins. Knowledge of ancestry and relatedness among RDEB patient populations will be crucial for the development of future clinical trials and the advancement of novel therapeutics.",

keywords = "epidermolysis bullosa, genetics, genodermatoses",

author = "Warshauer, {Emily Mira} and Adam Brown and Ignacia Fuentes and Jonathan Shortt and Chris Gignoux and Francesco Montinaro and Mait Metspalu and Leila Youssefian and Hassan Vahidnezhad and Joanna Jack{\'o}w and Christiano, {Angela M.} and Jouni Uitto and Fajardo-Ram{\'i}rez, {{\'O}scar R.} and Salas-Alanis, {Julio C.} and McGrath, {John A.} and Liliana Consuegra and Carolina Rivera and Maier, {Paul A.} and Goran Runfeldt and Behar, {Doron M.} and Karl Skorecki and Eli Sprecher and Francis Palisson and Norris, {David A.} and Bruckner, {Anna L.} and Igor Kogut and Ganna Bilousova and Roop, {Dennis R.}",

note = "Publisher Copyright: {\textcopyright} 2021 Wiley Periodicals LLC.",

year = "2021",

month = nov,

doi = "10.1002/ajmg.a.62456",

language = "אנגלית",

volume = "185",

pages = "3390--3400",

journal = "American Journal of Medical Genetics, Part A",

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Warshauer, EM, Brown, A, Fuentes, I, Shortt, J, Gignoux, C, Montinaro, F, Metspalu, M, Youssefian, L, Vahidnezhad, H, Jacków, J, Christiano, AM, Uitto, J, Fajardo-Ramírez, ÓR, Salas-Alanis, JC, McGrath, JA, Consuegra, L, Rivera, C, Maier, PA, Runfeldt, G, Behar, DM, Skorecki, K, Sprecher, E, Palisson, F, Norris, DA, Bruckner, AL, Kogut, I, Bilousova, G & Roop, DR 2021, 'Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry', American Journal of Medical Genetics, Part A, vol. 185, no. 11, pp. 3390-3400. https://doi.org/10.1002/ajmg.a.62456

TY - JOUR

T1 - Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

AU - Warshauer, Emily Mira

AU - Brown, Adam

AU - Fuentes, Ignacia

AU - Shortt, Jonathan

AU - Gignoux, Chris

AU - Montinaro, Francesco

AU - Metspalu, Mait

AU - Youssefian, Leila

AU - Vahidnezhad, Hassan

AU - Jacków, Joanna

AU - Christiano, Angela M.

AU - Uitto, Jouni

AU - Fajardo-Ramírez, Óscar R.

AU - Salas-Alanis, Julio C.

AU - McGrath, John A.

AU - Consuegra, Liliana

AU - Rivera, Carolina

AU - Maier, Paul A.

AU - Runfeldt, Goran

AU - Behar, Doron M.

AU - Skorecki, Karl

AU - Sprecher, Eli

AU - Palisson, Francis

AU - Norris, David A.

AU - Bruckner, Anna L.

AU - Kogut, Igor

AU - Bilousova, Ganna

AU - Roop, Dennis R.

PY - 2021/11

Y1 - 2021/11

N2 - Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis caused by mutations in the gene coding for type VII collagen (COL7A1). More than 800 different pathogenic mutations in COL7A1 have been described to date; however, the ancestral origins of many of these mutations have not been precisely identified. In this study, 32 RDEB patient samples from the Southwestern United States, Mexico, Chile, and Colombia carrying common mutations in the COL7A1 gene were investigated to determine the origins of these mutations and the extent to which shared ancestry contributes to disease prevalence. The results demonstrate both shared European and American origins of RDEB mutations in distinct populations in the Americas and suggest the influence of Sephardic ancestry in at least some RDEB mutations of European origins. Knowledge of ancestry and relatedness among RDEB patient populations will be crucial for the development of future clinical trials and the advancement of novel therapeutics.

AB - Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis caused by mutations in the gene coding for type VII collagen (COL7A1). More than 800 different pathogenic mutations in COL7A1 have been described to date; however, the ancestral origins of many of these mutations have not been precisely identified. In this study, 32 RDEB patient samples from the Southwestern United States, Mexico, Chile, and Colombia carrying common mutations in the COL7A1 gene were investigated to determine the origins of these mutations and the extent to which shared ancestry contributes to disease prevalence. The results demonstrate both shared European and American origins of RDEB mutations in distinct populations in the Americas and suggest the influence of Sephardic ancestry in at least some RDEB mutations of European origins. Knowledge of ancestry and relatedness among RDEB patient populations will be crucial for the development of future clinical trials and the advancement of novel therapeutics.

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KW - genetics

KW - genodermatoses

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IS - 11

ER -

Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

Abstract

Bibliographical note

Funding

Keywords

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