Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
October 2023
in “
Journal of dermatological science
”
MBTPS2 S2P proteolytic activity Ichthyosis follicularis alopecia photophobia IFAP syndrome Keratosis follicularis spinulosa decalvans Olmsted Syndrome follicular hyperkeratosis X-Linked Osteogenesis Imperfecta sterol regulating element binding protein SREBP signaling cholesterol homeostasis IFAP KFSD OS X-OI
Studysummary This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
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