A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina.

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.
(© 2020 Wiley Periodicals, Inc.)