Neurofibromatosis type 1 is one of the most common autosomal dominant diseases caused by heterozygous mutation in the NF1 gene. Wide spectrum of NF1-related clinical manifestations and mutation distribution makes genetic counselling difficult.
The study enrolled 58 unrelated Turkish patients with clinically suspected NF1 referred to the Department of Medical Genetics. Individuals were eligible if they 1) met at least two of the main National Institutes of Health criteria or 2) had multiple café-au-lait macules as a child.
Fourty-one different disease-causing variants were identified in 42 (72.4%) individuals, including 17 novel variants. Twenty-four (58.2%) of the NF1 patients had de novo variants. Café-au-lait macules were observed in all patients (100%). Intracranial hamartoma was the second most common phenotype, found in 52.3% (22/42) of the patients. Other common manifestations were neurofibromas (35.7%), axillary or inguinal freckling (28.5%), and Lisch nodules (28.5%). Additionally, one patient had intra-abdominal malignant peripheral nerve sheath tumours and another patient underwent surgery for serous papillary ovarian cancer.
In conclusion, this study is one of the largest studies from Turkey to investigate the NF1 mutation spectrum and genotype-phenotype correlations.

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