Neurofibromin 1 (NF1) Splicing Mutation c.61-2A>G: From Aberrant mRNA Processing to Therapeutic Implications In Silico.

doi:10.3390/ijms27031177

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Neurofibromin 1 (NF1) Splicing Mutation c.61-2A>G: From Aberrant mRNA Processing to Therapeutic Implications In Silico.

International journal of molecular sciences - 23 Jan 2026

Blazyte Asta, Lee Hojun, Yoon Changhan, Jeon Sungwon, Lee Jaesuk, Bayarsaikhan Delger, Kim Jungeun, Park Sangsoo, Cho Juok, Baek Sun Ah, Byun Gabin, Lee Bonghee, Bhak Jong

Abstract excerpt

The neurofibromin 1 (NF1) splice-site mutation c.61-2A>G (rs1131691100) is a rare, pathogenic, autosomal dominant variant that disrupts NF1 tumor-suppressor function, causing neurofibromatosis type 1 (NF1). Its pathogenic mechanism is poorly understood, and the potential for personalized therapeutic genome editing remains unknown due to the absence of a standard framework for investigating splicing disorders....

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PMID: 41683605
DOI: 10.3390/ijms27031177
PMCID: PMC12898238

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