Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.

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Contributed Indexing: Keywords: COL7A1; dystrophic epidermolysis bullosa; genodermatosis
Substance Nomenclature: 0 (COL7A1 protein, human)
0 (Collagen Type VII)
Entry Date(s): Date Created: 20220818 Date Completed: 20221011 Latest Revision: 20230130
Update Code: 20230130
DOI: 10.1002/ajmg.a.62957
PMID: 35979658
Autor: Natale MI; Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA), University of Buenos Aires, Buenos Aires, Argentina., Manzur GB; Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA), University of Buenos Aires, Buenos Aires, Argentina.; Rare Diseases of the Skin Unit, Dr. R. Gutierrez Children's Hospital, Buenos Aires, Argentina.; Dermatology Department, Hospital de Clinicas 'Jose de San Martín', Buenos Aires, Argentina., Lusso SB; Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA), University of Buenos Aires, Buenos Aires, Argentina., Cella E; Pediatric Dermatology, Prof. Dr. Juan P. Garrahan Children's Hospital, Buenos Aires, Argentina., Giovo ME; Pediatric Dermatology, La Santisima Trinidad Children's Hospital, Córdoba, Argentina., Andrada R; Dermatology, Avelino Castelan Children's Hospital, Resistencia, Chaco, Argentina., Goitia J; Pediatric Dermatology, Sor Maria Ludovica Children's Hospital, La Plata, Buenos Aires, Argentina., Fernández MF; Pediatric Dermatology, Fundacion Respirar, Argentina., Della Giovanna PS; Dermatology, Prof. A. Posadas Hospital, El Palomar, Buenos Aires, Argentina., Guillamondegui MJ; Genetics Unit, Humberto J. Notti Children's Hospital, Guaymallen, Mendoza, Argentina., Domínguez M; Pediatric Dermatology, Hospital General de Agudos 'Carlos G. Durand', Buenos Aires, Argentina., Gutiérrez O; Pediatric Dermatology, Niños de Acosta Ñu Children's Hospital, San Lorenzo, Paraguay., Izquierdo A; Bioinformatics, Translational Research Unit, Dr. R. Gutiérrez Children's Hospital, Buenos Aires, Argentina., Hernández Herrera H; Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA), University of Buenos Aires, Buenos Aires, Argentina.; Dermatology Department, Hospital de Clinicas 'Jose de San Martín', Buenos Aires, Argentina., Velázquez Perdomo LG; Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA), University of Buenos Aires, Buenos Aires, Argentina.; Dermatology Department, Hospital de Clinicas 'Jose de San Martín', Buenos Aires, Argentina., Mistchenko AS; Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA), University of Buenos Aires, Buenos Aires, Argentina., Valinotto LE; Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA), University of Buenos Aires, Buenos Aires, Argentina.; National Scientific and Technical Research Council (CONICET), Argentina.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Nov; Vol. 188 (11), pp. 3153-3161. Date of Electronic Publication: 2022 Aug 18.
DOI: 10.1002/ajmg.a.62957
Abstrakt: 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.
(© 2022 Wiley Periodicals LLC.)
Databáze: MEDLINE
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