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

IFAP syndrome ichthyosis alopecia MBTPS2 gene long-read RNA sequencing transcript isoform splice-altering variants

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.

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