Long-Read RNA Sequencing Reveals Extensive Transcript Isoform Changes in a Patient with IFAP Syndrome with a Recurrent Intronic MBTPS2 Variant

    April 2026 in “ Human Genome Variation ”
    Toshihiko Iwaki, Yosuke Nishio, Sachiyo Takagi, Keiichiro Fujii, Masanori Fujimoto, Emi Sato, Yuji Nakamura, Daisuke Ieda, Yutaka Negishi, Ayako Hattori, Tomoo Ogi, S. Saitoh
    Studysummary This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
    Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
    A study on a patient with IFAP syndrome, characterized by ichthyosis, alopecia, and photophobia, identified a hemizygous intronic variant in the MBTPS2 gene. This variant, previously known to cause a 20-base skipping in exon 7, was further investigated using long-read RNA sequencing. The analysis revealed additional skipping of exons 6 and 7 and a significant reduction in normal transcript expression compared to healthy skin. This highlights the utility of long-read RNA sequencing in identifying diverse transcript isoforms and understanding the impact of splice-altering variants.
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