Neurodevelopmental Comorbidities and Novel Population-based Mutations in Ethnic Patients with Neurofibromatosis Type 1

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Five distinct mutations were identified in neurofibromatosis type 1 patients, indicating significant genetic variability.
An in-frame deletion in exon 37 was the most common mutation among Turkish Cypriot patients with NF1.
Next-generation sequencing is crucial for enhancing the diagnostic sensitivity of neurofibromatosis type 1.
The presence of café-au-lait spots was noted in patients with various neurofibromatosis type 1 mutations.

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Investigation reveals novel mutations in neurofibromatosis type 1 patients, highlighting genetic variability.

Kafshboran et al. (2025) studied this question.

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