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Symmetrical acral keratoderma associated with new variants in the filaggrin gene

Par : Contributeur(s) : Type de matériel : TexteTexteLangue : français Détails de publication : 2024. Sujet(s) : Ressources en ligne : Abrégé : BackgroundSymmetrical acral keratoderma (SAK) is a rare skin disorder with symmetric hyperkeratotic patches on the acral regions. Variants in the filaggrin gene (FLG) have been associated with SAK since 2020.ObjectivesTo explore the clinical and genetic basis in six patients with SAK.Materials & MethodsWhole-exome sequencing, direct sequencing, and prediction of protein structure and function were performed.ResultsIn this study, we identified two novel variants, c.3320del and c.4909del, and seven previously reported variants, c.3099C>G, c.4544C>A, c.6950_6957del, c.7264G>T, c.7945del, c.8117C>G, c.12064A>T.ConclusionThe findings of this study bolster the existing evidence implicating FLG variants in SAK, introducing two novel variants to the database of FLG variants associated with the condition.
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BackgroundSymmetrical acral keratoderma (SAK) is a rare skin disorder with symmetric hyperkeratotic patches on the acral regions. Variants in the filaggrin gene (FLG) have been associated with SAK since 2020.ObjectivesTo explore the clinical and genetic basis in six patients with SAK.Materials & MethodsWhole-exome sequencing, direct sequencing, and prediction of protein structure and function were performed.ResultsIn this study, we identified two novel variants, c.3320del and c.4909del, and seven previously reported variants, c.3099C>G, c.4544C>A, c.6950_6957del, c.7264G>T, c.7945del, c.8117C>G, c.12064A>T.ConclusionThe findings of this study bolster the existing evidence implicating FLG variants in SAK, introducing two novel variants to the database of FLG variants associated with the condition.

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