http://jmg.bmj.com Journal of Medical Genetics RSS feed -- recent Somatic mosaicism articles 1468-6244 Journal of Medical Genetics 0022-2593 http://hwmaint.jmg.bmj.com/homepage/JMG_95x60.gif http://jmg.bmj.com http://jmg.bmj.com/cgi/content/short/62/6/405?rss=1 Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited disorder caused by pathogenic variants in the NF1 gene, resulting in diverse clinical manifestations, especially multiple cutaneous neurofibromas. In approximately 50% of cases, variants occur de novo, and a portion of these cases involves genetic mosaicism, where variants are present in a subset of cells of an individual. Mosaic NF1 often presents with a milder phenotype and reduced transmission risk, complicating clinical diagnosis and genetic consulting. Conventional blood-based genetic testing may fail to detect the pathogenic variants in mosaic cases, necessitating additional analysis using tumour-derived DNA. We present five such cases and suggest a comprehensive diagnostic workflow focusing on tumour-based analysis for mosaic cases.

]]> 2025-05-27T03:00:29-07:00 info:doi/10.1136/jmg-2024-110580 hwp:master-id:jmedgenet;jmg-2024-110580 BMJ Publishing Group Ltd 2025-06-01 Somatic mosaicism 62 6 405 408