Study of neurofibromatosis type 1 in the Republic of Bashkortostan – results and prospects

Abstract

   Introduction. Neurofibromatosis type 1 (NF1) is one of the most common hereditary tumor syndromes caused by NF1 gene mutations. For differential diagnostics and reliable diagnosis of NF1, finding NF1 gene mutation is crucial, which will allow for primary preimplantation and secondary prevention of NF1.

   Objective: to determine clinical, epidemiological and molecular features of NF1 in the Republic of Bashkortostan.

   Methods. Retrospective analysis of NF1 from the Republic of Bashkortostan, describing NF1 clinical manifestations. Blood was taken to isolate DNA samples.

   Results. NF1 prevalence in the republic was 13.5 per 100,000. The frequency of registration of neurofibromas (58 %), Lisch nodules (1 %), plexiform neurofibromas (7 %), optic nerve gliomas (6 %), and intellectual disability (14 %) is significantly lower than the global average for NF1. The molecular genetic analysis of DNA samples from patients revealed 14 different mutations in NF1 gene in 20 patients from 17 families.

   Conclusions. The frequency of registration of NF1 specific signs in patients from the republic is significantly lower than the world average, which indicates the need for dynamic examination of patients, the whole body MRI, consultations with psychologists and psychiatrists. It is promising to search for mutations in the NF1 gene in all patients.