Preview

Yakut Medical Journal

Advanced search

Clinical-epidemiological research of neurofibromatosis type I in Republic Bashkortostan

Abstract

The aim of the present investigation is to study Neurofibromatosis type 1 prevalence in Republic of Bashkortostan. The disease is distributed irregularly through various districts of the Republic, on average, NF1 occurrence in Bashkortostan is 4,7 cases per 100 000 inhabitants. The disease was revealed in all ethnic groups of the studied population. In women the disease was slightly more frequent than in men (1,2:1). THis study shows the variability of the NF1 phenotype. In 55,0% of NF1 cases only one person in the family tends to suffer from the disease.

About the Authors

R. N. Mustafin
Институт биохимии и генетики Уфимского научного центра РАН
Russian Federation


M. A. Bermisheva
Институт биохимии и генетики УНЦ РАН
Russian Federation


E. K. Khusnutdinova
Институт биохимии и генетики УНЦ РАН
Russian Federation


References

1. A novel bipartite phosoholibid-binding module in the neurofibromatosis type 1 protein //EMBO reports. – 2006 – V. 7.№ 2. – P.174-179.

2. An epidemiological, clinical and genetic survey of Neurofibromatosis type 1 in children under sixteen years of age //Ulster Med. J. – 2008 – V.77 (3). – P.160-163.

3. Functional analysis of splicing mutations in exon 7 of NF1 gene. //BMC Medical Genetics. – 2007 - 8:4.

4. Korf B.R. Malignancy in Neurofibromatosis Type 1//Oncologist. – 2000 – 5 – Р.477-485.

5. Malignant peripheral nerve sheath tumours in neurofibromatosis 1 //J. Med. Genet. - 2002 – V.39 – P.311-314.

6. National Institutes of Health Consensus Development Conference. Neurofibromatosis: conference STATement //Arch. Neurol. – 1988 – V.45 – P.575-578.

7. Rasmussen S.A., Friedman J.M.. NF1 Gene and Neurofibromatosis 1 //American Journal of Epidemiology. – 2000 - V.151. №1. – Р.33-40.

8. Seizinger B.R. NF1: a prevalent cause of tumorigenesis in human cancers? //Nature Genet. 1993 - V.3 - P.97-99.

9. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2 //JAMA. - 1997 – V.278 – P.51-57.

10. The neurofibromatosis type 1 gene encodes a protein related to GAP// Cell. - 1990. V.62 - P.599-608.

11. The neurofibromin GAP-related domain rescues endothelial but not neural crest development in NF1-/- mice //The Journal of Clinical Investigation. – 2006 - V.116. №9 – P.2378-2384.


Review

For citations:


Mustafin R.N., Bermisheva M.A., Khusnutdinova E.K. Clinical-epidemiological research of neurofibromatosis type I in Republic Bashkortostan. Yakut Medical Journal. 2009;(2):23-25. (In Russ.)

Views: 25


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 1813-1905 (Print)
ISSN 2312-1017 (Online)