Artículo
A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina
Valinotto, Laura Elena
; Natale, Mónica Inés; Lusso, Silvina Beatriz; Cella, Eliana; Gutiérrez, Olga Eva; Sebastiani, Fernando; Manzur, Graciela Beatriz
Fecha de publicación:
01/2020
Editorial:
Wiley Blackwell Publishing, Inc
Revista:
Pediatric Dermatology
ISSN:
0736-8046
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
Background: Kindler syndrome is a rare genodermatosis. Major clinical criteria include acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Methods: FERMT1 gene was sequenced in 5 patients with a clinical diagnosis of Kindler syndrome. Results: We report a novel pathogenic variant detected in four unrelated families of Paraguayan origin, where one nucleotide deletion in FERMT1 gene (c.450delG) is predicted to cause a frameshift mutation leading to loss of function. Haplotype analysis revealed the propagation of an ancestral allele through this population. Conclusions: The identification of this recurrent pathogenic variant enables optimization of molecular detection strategies in our patients, reducing the cost of diagnosis.
Palabras clave:
EPIDERMOLYSIS BULLOSA
,
FERMT1
,
GENODERMATOSES
,
KINDLER SYNDROME
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Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Articulos de SEDE CENTRAL
Citación
Valinotto, Laura Elena; Natale, Mónica Inés; Lusso, Silvina Beatriz; Cella, Eliana; Gutiérrez, Olga Eva; et al.; A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina; Wiley Blackwell Publishing, Inc; Pediatric Dermatology; 37; 2; 1-2020; 337-341
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