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Item type:Publication, A Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions(MDPI AG, 2025-04-29); Kindler Epidermolysis bullosa (KEB; OMIM 173650) is a rare autosomal recessive genodermatosis characterized by bullous poikiloderma and photosensitivity. Additional presentations include blistering, poor wound healing, skin atrophy, and increased risk of skin cancer. Most cases of KEB result from aberrations in the FERMT1 (Fermitin family member 1) gene encoding kindlin-1 and include nonsense, frameshift, splicing, and missense variants. Large deletion variants have been reported in nine cases to date. Most variants are predicted to lead to premature termination of translation and to loss of kindlin-1 function. In this study, we report on a 33-year-old male patient who presented with typical clinical manifestations of KEB. As routine molecular testing failed to obtain a diagnosis, Next Generation Sequencing (NGS) of an Epidermolysis Bullosa (EB)-specific panel was carried out followed by the determination of the deletion breakpoints and verification at the mRNA and protein levels. This approach revealed a new large homozygous deletion of ~9.4 kb in the FERMT1 gene involving exons 7 to 9. Finally, we performed a literature review on large FERMT1 deletions. The deletion is predicted to skip exons 7 to 9 within the mRNA, which results in a frameshift. The patient’s phenotype is likely caused by the resulting truncated and non-functioning protein. Our report further enriches the spectrum of FERMT1 gene variants to improve genotype–phenotype correlations.1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Outcomes and Predictors for Re-stenosis of Esophageal Stricture in Epidermolysis Bullosa: A Multicenter Cohort Study(2020)16Scopus© Citations 14 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Characterization of the epidermal-dermal junction in hiPSC-derived skin organoids(2022); 26Scopus© Citations 46 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Early teeth extraction in patients with generalized recessive dystrophic epidermolysis bullosa: A case series(2020); ; Fatimah AlsayerScopus© Citations 7 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Cells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa(2020); 22Scopus© Citations 19 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Scopus© Citations 11 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry(2021); 19Scopus© Citations 7 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility(2020)25Scopus© Citations 665 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic—Consensus: Recommendations by an international panel of experts(2020)Scopus© Citations 8 4 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, 9