Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype.
Hui Li KwongYong-Kwang TayEne Choo TanPublished in: F1000Research (2021)
Neurofibromatosis 1 (NF1) is a neurocutaneous syndrome characterized by multiple café-au-lait macules, cutaneous neurofibromas or plexiform neurofibromas, iris Lisch nodules, axillary and inguinal freckling. Mosaicism in NF1 can either present as a generalized disease, or in a localized (segmental) manner. Mosaic generalized NF1 may have presentations that are similar to generalized NF1 or have a milder phenotype and hence may be under-recognised in clinical practice. We report a nonsense mutation in the NF1 gene in a 55-year old Chinese male with the mosaic generalized phenotype. He reported noticing increasing numbers of skin-colored papules over his face, neck, back and abdomen when he was about 40 years old. From both next-generation and Sanger sequencing data, the variant appeared to be mosaic and present at about 24%. It is in exon 39 and has not been reported in any database or published literature.
Keyphrases
- signaling pathway
- lps induced
- pi k akt
- nuclear factor
- oxidative stress
- case report
- inflammatory response
- clinical practice
- prostate cancer
- systematic review
- emergency department
- randomized controlled trial
- immune response
- toll like receptor
- squamous cell carcinoma
- cell proliferation
- electronic health record
- early stage
- gold nanoparticles
- radiation therapy
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- big data
- genome wide identification
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- transcription factor
- locally advanced