AI Article Synopsis
- - Symmetrical acral keratoderma (SAK) is a rare skin condition characterized by symmetrical thick patches of skin on the hands and feet, linked to variations in the filaggrin gene (FLG).
- - A study investigated the clinical and genetic backgrounds of six SAK patients using whole-exome sequencing and other techniques.
- - Researchers discovered two new genetic variants and confirmed seven previously known variants related to FLG, reinforcing the connection between these variants and SAK.
Article Abstract
Symmetrical 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. To explore the clinical and genetic basis in six patients with SAK. Whole-exome sequencing, direct sequencing, and prediction of protein structure and function were performed. In 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. The 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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| http://dx.doi.org/10.1684/ejd.2024.4740 | DOI Listing |
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