Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
epidermolysis bullosa
genetics
genodermatoses
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
revised:
11
07
2021
received:
24
05
2021
accepted:
14
07
2021
pubmed:
27
8
2021
medline:
19
2
2022
entrez:
26
8
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34435747
doi: 10.1002/ajmg.a.62456
pmc: PMC8668271
mid: NIHMS1745069
doi:
Substances chimiques
COL7A1 protein, human
0
Collagen Type VII
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
3390-3400Subventions
Organisme : NIAMS NIH HHS
ID : U01 AR075932
Pays : United States
Organisme : NIAMS NIH HHS
ID : P30 AR069632
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR059947
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01AR059947
Pays : United States
Organisme : NIAMS NIH HHS
ID : U01AR075932
Pays : United States
Informations de copyright
© 2021 Wiley Periodicals LLC.
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