Neurofibromatosis type 1 molecular testing and clinical presentation of two cases

• Main Authors: Crsitina Gug, Andrei Anghel, Liviu Tamas, Edward Seclman, Patrick Willems
• Format: Article
• Language: English
• Published: "Alexandru Ioan Cuza" University of Iași 2010-06-01
• Series: Analele Ştiinţifice Ale Universităţii Alexandru Ioan Cuza din Iași,Sectiunea II A : Genetica si Biologie Moleculara
• Online Access: http://www.gbm.bio.uaic.ro/index.php/gbm/article/view/758

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.