Phenotypic Spectrum of Neurofibromatosis Type 1 Patients in India and Low Prevalence of Microdeletions in NF1 Gene.

Neurofibromatosis type 1 (NF1) is a complex multisystem disorder with marked phenotypic heterogeneity and variable expressivity. While its clinical features have been extensively documented in Western populations, data from India remain limited and largely based on smaller cohorts. This study provides a comprehensive description of the NF1 phenotype in an Indian cohort of 72 patients. The study also explored the frequency of NF1 deletions/duplications in NF1 and their contribution to clinical variability. This cohort adds to the limited Indian data on NF1 and highlights the need for molecular testing in routine clinical evaluation. These findings emphasize the importance of region-specific phenotypic profiling and support the integration of genetic insights into individualized patient care.