Neurofibromatosis type 1 molecular testing and clinical presentation of two cases

Neurofibromatosis type 1 is caused by mutations in the NF1 gene located on chromosome 17q. Case 1: A 1 year 7-month-old boy had progressive right ptosis which began when he was 19 months of age and numerous café-au-lait spots. Case 2: A 28 years old woman presents: café-au-lait spots, one subcutaneous tumor on the left leg, a first degree family member, who has NF1-malignant form. Molecular Genetic analysis consisted of: 1. Amplification of the entire coding region of the NF1 gene. 2. Screening for deletions and duplications in the NF1 gene by MLPA analysis. Results: Case 1: A heterozygous c.1719delT mutation was identified in exon 11 of the NF1 gene. Case 2: A heterozygous c.6709C>T mutation was identified in exon 45 of the NF1 gene. Conclusions: The mutations founded in both cases determined a truncated NF1 protein, which is disease-causing.