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

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.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Valinotto LE,Natale MI,Lusso SB,Cella E,Gutiérrez O,Sebastiani F,Manzur GB

doi

10.1111/pde.14076

subject

Has Abstract

pub_date

2020-03-01 00:00:00

pages

337-341

issue

2

eissn

0736-8046

issn

1525-1470

journal_volume

37

pub_type

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