Serotonin transporter gene polymorphism and psychiatric disorders in NF1 patients

Neurofibromatosis type 1 (NF1) is an autosomal-dominant genetic disease characterized by a broad clinical expression. Comorbid affective disorders, anxiety disorders, and suicide are frequently observed during NF1. The promoter marker (5-HTTLPR) of the serotonin transporter gene (5-HTT) has been shown to be associated with major affective disorders, anxiety-related trait, and more recently with suicidal behavior. This gene is adjacent to the NF1 gene, raising the question of the implication of the 5-HTT gene in the psychiatric comorbidity during NF1. Eighty-eight patients with NF1 and 184 screened controls were typed for the 5-HTTLPR. No deviation from the Hardy-Weinberg equilibrium in patients was observed. In addition, allele and genotype frequencies were similar in the two groups. Our data do not support the implication of the 5-HTT gene in the psychiatric comorbidities of NF1.