Clinical case of the new mutation in the GDAP1 gene in the family with hereditary motor-sensory neuropathy 2K
https://doi.org/10.1234/XXXX-XXXX-2015-10-46-48
Abstract
The clinical features of the disease in patients from a Russian family with the dominant hereditary motor and sensory neuropathy (HMSN) due to the new mutation in the GDAP1 gene: s.934G> A (p.Ala312Thr) are described in this article. The main characteristics of the disease: age of onset (2 decade of life), slow progression, mild clinical symptoms (compared to frequent recessive form HMSN4A) and predominantly axonal lesion of the nerve fibers correspond to known form - HMSN2K.
About the Authors
E. V. Saifullina
Bashkir State Medical University
Russian Federation
Russian Federation
I. M. Khidiyatova
Institute of Biochemistry and Genetics
Russian Federation
Russian Federation
R. V. Magzhanov
Bashkir State Medical University
Russian Federation
Russian Federation
I. A. Skachkova
Institute of Biochemistry and Genetics
Russian Federation
Russian Federation
E. K. Khusnutdinova
Institute of Biochemistry and Genetics
Russian Federation
Russian Federation
References
1. nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 1997, Naarden, The Netherlands. Available at: http://www.nmd-journal.com/article/ S0960-8966(98)00025-X/fulltext (accessed 18 September, 2015).
2. Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., Kondrashov A.S., Sunyaev S.R. A method and server for predicting damaging missense mutations // Nat. Methods. - 2010. - 7. - P. 248-249. doi:10.1038/nmeth0410-248.
3. Baets J., De Jonghe P., Timmerman V. Recent advances in Charcot-Marie-Tooth disease // Current Opinion in Neurology. - 2014. - Vol. 27 (5). - P. 532-540.
4. Cassereau J., Chevrollier A., Gueguen N., Malinge M.C., Letournel F.et al. Mitochondrial complex I deficiency in GDAP1-related autosomal-dominant Charcot-Marie-Tooth disease (CMT 2K) // Neurogenetics. - 2009. - Vol. 10 (2). - P. 145-150.
5. Chung K.W., Kim S.M., Sunwoo I.N., Cho S.Y., Hwang S.J., Kim J., Kang S.H., Park K.D., Choi K.G., Choi I.S., Choi B.O. A novel GDAP1 Q218E mutation in autosomal-dominant Charcot-Marie-Tooth disease // J. Hum. Genet. - 2008. - Vol. 53. - P. 360-364.
6. Claramunt R., Pedrola L., Sevilla T. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect // J. Med. Genet. - 2005. - Vol. 42 (4). - P. 358-365.
7. Crimella C., Tonelli A., Airoldi G., Baschirotto C., D’Angelo M.G., Bonato S., Losito L., Trabacca A., Bresolin N., Bassi M.T. The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K // J. Med. Genet. - 2010. - Vol. 47. - P. 712-716.
8. Mathew C. C. The isolation of high molecular weight eucariotic DNA; Methods in Molecular Biology / Еd. J.M. Walker. - N.Y.: Human Press, 1984. - 2. - P. 31-34.
9. Niemann A., Wagner K.M., Ruegg M., Suter U. GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance // Neurobiol. Dis. - 2009. - Vol. 36. - P. 509-520.
10. Pedrola L., Espert A., Wu X. et al. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria // Hum Mol. Genet. - 2005. - Vol. 14 (8). - P. 1087-1094.
11. Sivera R., Espinos C., Vilchez J.J., Mas F., Martinez-Rubio D., Chumillas M.J. et al. Phenotypical features of thep.R120W mutation in the GDAP1 gene causing autosomal-dominant Charcot-Marie-Tooth disease // Journal of the Peripheral Nervous System. - 2010. - Vol. 15 (4). - P. 334-344.
12. Szigeti K., Lupski J.R. Charcot-Marie-Tooth disease // European Journal of Human Genetics. - 2009. - Vol. 13. - P. 703-710.
13. http://fokker.wi.mit.edu/primer3/input.htm
Review
For citations:
Saifullina E.V., Khidiyatova I.M., Magzhanov R.V., Skachkova I.A., Khusnutdinova E.K. Clinical case of the new mutation in the GDAP1 gene in the family with hereditary motor-sensory neuropathy 2K. Medical Genetics. 2015;14(10):46-48. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2015-10-46-48
Views:
657
Email this article 