Artículo
Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation
Natale, Mónica Inés; Manzur, Graciela Beatriz; Lusso, Silvina Beatriz; Cella, Eliana; Giovo, María Elsa; Andrada, Romina; Goitia, Juana; Fernández, María Florencia; Della Giovanna, Patricia Silvia; Guillamondegui, María José; Domínguez, Mariángeles; Gutiérrez, Olga Eva; Izquierdo, Agustín; Hernández Herrera, Heliana; Velázquez Perdomo, Luz Graciela; Mistchenko, Alicia Susana; Valinotto, Laura Elena
Fecha de publicación:
11/2022
Editorial:
Wiley-liss, div John Wiley & Sons Inc.
Revista:
American Journal of Medical Genetics Part A
ISSN:
1552-4825
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
Dystrophic epidermolysis bullosa (DEB) is a clinically heterogeneous heritable skin disorder, characterized by blistering of the skin and mucous membranes following minor trauma. Dominant (DDEB) and recessive (RDEB) forms are caused by pathogenic variants in COL7A1 gene. Argentina's population has a heterogeneous genetic background, and little is known about the molecular basis of DEB in our country or in native South American populations. In this study, we present the prevalence and geographical distribution of pathogenic variants found in 181 patients from 136 unrelated families (31 DDEB and 105 RDEB). We detected 95 different variants, 59 of them were previously reported in the literature and 36 were novel, nine of which were detected in more than one family. The most prevalent pathogenic variants were identified in exon 73 in DDEB patients and in exon 3 in RDEB patients. We also report a new phenotype–genotype correlation found in 10 unrelated families presenting mild blistering and severe mucosal involvement. Molecular studies in populations with an unexplored genetic background like ours revealed a diversity of pathogenic variants, and we hope that these findings will contribute to the definition of targets for new gene therapies.
Palabras clave:
COL7A1
,
DYSTROPHIC EPIDERMOLYSIS BULLOSA
,
GENODERMATOSIS
Archivos asociados
Licencia
Identificadores
Colecciones
Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Articulos de SEDE CENTRAL
Citación
Natale, Mónica Inés; Manzur, Graciela Beatriz; Lusso, Silvina Beatriz; Cella, Eliana; Giovo, María Elsa; et al.; Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation; Wiley-liss, div John Wiley & Sons Inc.; American Journal of Medical Genetics Part A; 188; 11; 11-2022; 3153-3161
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