A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina
| Autor: | Laura Elena Valinotto, Graciela Manzur, Olga Gutierrez, Mónica I Natale, Silvina Beatriz Lusso, Eliana Cella, Fernando Sebastiani |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Adolescent Argentina Dermatology Kindler syndrome 030207 dermatology & venereal diseases 03 medical and health sciences Young Adult 0302 clinical medicine Blister Medicine Humans Photosensitivity Disorders Child Periodontal Diseases business.industry Membrane Proteins Thesaurus medicine.disease Neoplasm Proteins 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Female Epidermolysis bullosa business Epidermolysis Bullosa Humanities |
| Zdroj: | Pediatric dermatologyREFERENCES. 37(2) |
| ISSN: | 1525-1470 |
| Popis: | 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.FERMT1 gene was sequenced in 5 patients with a clinical diagnosis of Kindler syndrome.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.The identification of this recurrent pathogenic variant enables optimization of molecular detection strategies in our patients, reducing the cost of diagnosis. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text