Clinical and molecular genetic features of neurofibromatosis type
https://doi.org/10.25557/2073-7998.2021.10.3-12
Abstract
Neurofibromatosis type 2 is a rare genetic disorder caused by pathogenic mutations in the NF2 tumor suppressor gene which encodes a protein called merlin. This review describes the structure, functions, and post-translational modifications of merlin, highlights clinical features and known genotype-phenotype correlations of neurofibromatosis type 2, and provides information on the merlin binding sites and the functional contribution of mutations they harbor, which lays the basis for personalized therapy for neurofibromatosis type 2.
About the Authors
K. O. Karandasheva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
E. S. Makashova
National Medical Research Center for Neurosurgery named after Academician N.N. Burdenko; Moscow Clinical Scientific Center named after Loginov
Russian Federation
Russian Federation
A. A. Martyanova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
K. I. Anoshkin
Research Centre for Medical Genetics
Russian Federation
Russian Federation
S. V. Zolotova
National Medical Research Center for Neurosurgery named after Academician N.N. Burdenko
Russian Federation
Russian Federation
V. V. Strelnikov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Karandasheva K.O., Makashova E.S., Martyanova A.A., Anoshkin K.I., Zolotova S.V., Strelnikov V.V. Clinical and molecular genetic features of neurofibromatosis type. Medical Genetics. 2021;20(10):3-12. (In Russ.) https://doi.org/10.25557/2073-7998.2021.10.3-12
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