Tuberous sclerosis case in Karachay-Cherkess Republic
https://doi.org/10.1234/XXXX-XXXX-2016-8-10-12
Abstract
Importance. To perform molecular diagnosis in familial case of tuberous sclerosis in Karachay-Cherkess Republic. Objective. To confirm clinical diagnosis of tuberous sclerosis in proband and his relatives. Design, Setting and Participants. High-throughput sequencing (HTS) was used for initial molecular diagnosis in proband. Sanger sequencing was used to confirm high-throughput sequencing data and to determine mutation statusin the family. Results. Recurrent nonsense mutation was identified in proband and his affected relatives. Mutation lead to premature stop codon in 692 codon of TSC1 . Mutation was confirmed in affected relatives of proband. Conclusions and Relevance. Combination of HTS with detailed analysis of clinical data enabled to identify causative mutation in a family with tuberous sclerosis. Mutation co-segregated with the disease in the family.
About the Authors
A. V. Marakhonov
Research Centre for Medical Genetics; Moscow Institute of Physics and Technology (State University)
Russian Federation
Russian Federation
A. Kh. Makaov
Habezskaya central district hospital
Russian Federation
Russian Federation
T. A. Vasilyeva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
E. L. Dadali
Research Centre for Medical Genetics
Russian Federation
Russian Federation
E. E. Timkovskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
R. A. Zinchenko
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
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Review
For citations:
Marakhonov A.V., Makaov A.Kh., Vasilyeva T.A., Dadali E.L., Timkovskaya E.E., Zinchenko R.A. Tuberous sclerosis case in Karachay-Cherkess Republic. Medical Genetics. 2016;15(8):10-12. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-8-10-12
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