A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina.
Pediatr Dermatol
; 37(2): 337-341, 2020 Mar.
Article
en En
| MEDLINE
| ID: mdl-31957900
ABSTRACT
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
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades Periodontales
/
Trastornos por Fotosensibilidad
/
Vesícula
/
Epidermólisis Ampollosa
/
Proteínas de la Membrana
/
Proteínas de Neoplasias
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
País/Región como asunto:
America do sul
/
Argentina
Idioma:
En
Revista:
Pediatr Dermatol
Año:
2020
Tipo del documento:
Article
País de afiliación:
Argentina