A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
Nabavizadeh N, Bressin A, Shboul M, Moreno Traspas R, Chia PH, Bonnard C, Szenker-Ravi E, Sarıbaş B, Beillard E, Altunoglu U, Hojati Z, Drutman S, Freier S, El-Khateeb M, Fathallah R, Casanova JL, Soror W, Arafat A, Escande-Beillard N, Mayer A, Reversade B.
Nabavizadeh N, et al.
EMBO Mol Med. 2023 Feb 8;15(2):e16478. doi: 10.15252/emmm.202216478. Epub 2023 Jan 18.
EMBO Mol Med. 2023.
PMID: 36652330
Free PMC article.
By integrating homozygosity mapping and RNA-seq, we delineated a deep intronic TAPT1 mutation (c.1237-52 G>A) that segregated with the disease. Using SI-NET-seq, we document that TAPT1's nascent transcription was not affected in patients' fibroblasts, indicating instead …
By integrating homozygosity mapping and RNA-seq, we delineated a deep intronic TAPT1 mutation (c.1237-52 G>A) that segregated with the di …