ABSTRACT

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant genetic disorder. The prevalence of this syndrome is 1/3000. Its expression is highly variable and the most common features are cafe-au-lait spots on the skin, Lisch nodules in the eye, and fibromatous tumors of the skin. The diagnosis of NF1 is established with any 2 out of 6 diagnostic criteria features. Here we present a girl with NF1 having a novel mutation and discuss genetic counseling of this rare genetic syndrome. Proband, 8-year-old female was born to non-consanguineous parents at term. Her mother died at 24-year-old, because of a brain tumor resulting from NF1 diagnosed clinically. On physical examination she had more than 6 café au lait macules, freckling in the axillary and inguinal regions. Mutation analysis revealed a novel heterozygous c.2557C>T (p.Q853X) in NF1 gene. The individuals and their families should be informed for detailed information about NF1 and should be provided with genetic counseling and proper follow-up.