Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene

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Milovidova T.B.

Rossiĭskiĭ gosudarstvennyĭ meditsinskiĭ universitet;
Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva;
Voronezhskiĭ oblastnoĭ klinicheskiĭ diagnosticheskiĭ tsentr;
mezhoblastnaia mediko-geneticheskaia konsul'tatsiia

Dadali E.L.

FGBU Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Fedotov V.P.

Voronezhskaia mezhoblastnaia mediko-geneticheskaia konsul'tatsiia

Shchagina O.A.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Poliakov A.V.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene

Authors:

Milovidova T.B., Dadali E.L., Fedotov V.P., Shchagina O.A., Poliakov A.V.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2011;111(12): 48‑55

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To cite this article:

Milovidova TB, Dadali EL, Fedotov VP, Shchagina OA, Poliakov AV. Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene. S.S. Korsakov Journal of Neurology and Psychiatry. 2011;111(12):48‑55. (In Russ.)

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)

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Abstract:

Hereditary motor-sensor neuropathy (HMSN) caused by mutations in the MPZ (P0) gene is a rare variant of hereditary demyelinating polyneuropathies that makes up 5-10% of all cases in different populations. Based on the complex examination of patients of the Russian Federation with different MPZ (P0) mutations, we obtained clinical-genetic, electromyographic and molecular-genetic characteristics of HMSN caused by mutations in the MPZ (P0) gene. Peculiarities of clinical presentations in patients with HMSN, types 1B and 2I, are presented. Diagnostic criteria of these genetic variants have been formed. The new allelic variants of HMSN caused by mutations in the MPZ (P0) gene are described. The distribution of mutations by protein domains has been analyzed.

Keywords:

hereditary motor-sensor neuropathy

MPZ gene

mutations

Authors:

Milovidova T.B.

Rossiĭskiĭ gosudarstvennyĭ meditsinskiĭ universitet;
Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva;
Voronezhskiĭ oblastnoĭ klinicheskiĭ diagnosticheskiĭ tsentr;
mezhoblastnaia mediko-geneticheskaia konsul'tatsiia

Dadali E.L.

FGBU Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Fedotov V.P.

Voronezhskaia mezhoblastnaia mediko-geneticheskaia konsul'tatsiia

Shchagina O.A.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Poliakov A.V.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

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References:

Tiburkova T.B., Shchagina O.A., Dadali E.L. i dr. Issledovanie gena GJB1 v vyborke rossiiskikh bol'nykh s nasledstvennoi motorno-sensornoi neiropatiei tipa I. Med gen 2009; 7: 30-38.
Bai Y., Ianokova E., Pu Q. et al. Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Arch Neurol 2006; 63: 1787-1794.
Bird T.D., Kraft G.H., Lipe H.P. et al. Clinical and pathological phenotype of the original family with Charcot-Marie Tooth type 1B: a 20-year study. Ann neurol 1997; 41: 463-469.
Bissar-Tadmouri N., Gulsen-Parman Y. et al. Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins]. Hum Mutat 1999; 14: 449.
Blanquet-Grossard F., Pham-Dinh D., Dautigny A. et al. Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene. Clin Genet 1995; 48: 281-283.
Boercoel C.F., Takashima H., Garcia C.A. et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype- phenotype correlation. Ann neurol 2002; 51: 190-201.
De Jonghe P., Timmerman V., Ceuterick C. et al. The THR124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999; 122: 2: 281-290.
Shapon F., Latour P., Diraison P. et al. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosur Psich 1999; 66: 779-782.
Filbin M.T., Walsh F.S., Trapp B.d. et al. Role of myelin Po protein as a hemophilic adhesion molecule. Nature 1990; 344: 160-167.
Filbin M.T., Zhang K., Li W., Gao Y. Characterization of the effect on adhesion of different mutations in protein. Ann NY Academy Sci 1999; 883: 160-167.
Gaboreanu F.M., Hrstka R., Xu W. et al. Myelin protein zero/Po phosphorilation and function require an adaptor protein linking it to RACK and PKCα. J Cell Biol 2007; 177: 707-716.
Lee Y.C., Yu C.T., Lin K.P. et al. MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease. Neurology 2008; 70: 273-277.
Marques W.Jr., Hanna M.G. et al. Phenotypic variation of a new P0 mutation in genetically identical twins. Neurology 1999; 246: 596-599.
Marrosu M.G., Vaccargiu S., Marrosu G. et al. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 1998; 50: 1397-13401.
Mersiyanova I.V., Ismailov S.M., Polyakov A.V. et al. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 in Russian Charcot-Marie-Tooth neuropathy patients. Hum Mutat 2000; 15: 340-347.
Misu K., Yoshihara T., Shikama Y. et al. An axonal form of Charcot-
Nelis E., Timmerman V., De Jonghe P. et al. Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. Hum Genet 1994; 94: 653-657.
Nelis E., Van Broeckhoven C., De Jonghe P. et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability of pressure palsies: a European collaborative study. Eur J hum mut 1996; 4: 25-33.
Rautenstrauss B., Nelis E. et al. Identification of a de novo insertional mutation in P0 in a patient with a Dejerine-Sottas syndrome (DSS) phenotype. Hum Mol Genet 1994; 3: 1701-1702.
Senderek J., Hermanns B., Lehmann U. et al. Charcot-Marie-Tooth neuropathy type 2 and Po point mutations: two novel amino acid substitutions (Asp61Gly,Tyr119Cys) and a possible "hotspot" on Thr124Met. Brain pathol 2000; 10: 235-248.
Shy M.E., Jani A., Krajewski K. et al. Phetotypic clustering in MPZ mutations. Brain 2004; 127: 371-384.
Uemyra K., Kitamyra K., Miura M. et al. Structure and molecular biology of Po protein. In: Martenson RE, editor. Myelin: biology and chemistry. Boca Raton (FL): CRC Press 1992; 481-508.
Warner L.E., Mancias P., Butler I.J. et al. Clinical phenotype of different MPZ (Po) mutations may include Charcot-Marie-Tooth type 1B, Dejerin-Sottas and congenital hypomyelination. Neuron 1996; 17: 451-460.
Yoshihara T., Yamamoto M., Doyu M. et al. Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease. Hum Mutat 2000; 16: 177-178.

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