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Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
Hum Mutat. 2000; 15(4):340-7.HM

Abstract

Charcot-Marie-Tooth disease (CMT) and related inherited peripheral neuropathies, including Dejerine-Sottas syndrome, congenital hypomyelination, and hereditary neuropathy with liability to pressure palsies (HNPP), are caused by mutations in three myelin genes: PMP22, MPZ and Cx32 (GJB1). The most common mutations are the 1.5 Mb CMT1A tandem duplication on chromosome 17p11.2-p12 in CMT1 patients and the reciprocal 1.5 Mb deletion in HNPP patients. We performed a mutation screening in 174 unrelated CMT patients and three HNPP families of Russian origin. The unrelated CMT patients included 108 clinically and electrophysiologically diagnosed CMT1 cases, 32 CMT2 cases, and 34 cases with unspecified CMT. Fifty-nine CMT1A duplications were found, of which 58 belonged to the CMT1 patient group. We found twelve distinct mutations in Cx32, six mutations in MPZ, and two mutations in PMP22. Of these respectively, eight, five, and two lead to a CMT1 phenotype. Eight mutations (Cx32: Ile20Asn/Gly21Ser, Met34Lys, Leu90Val, and Phe193Leu; MPZ: Asp134Gly, Lys138Asn, and Thr139Asn; PMP22: ValSer25-26del) were not reported previously. Phenotype-genotype correlations were based on nerve conduction velocity studies and mutation type.

Authors+Show Affiliations

Laboratory of DNA Diagnostics, Research Centre for Medical Genetics, Moscow, Russia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10737979

Citation

Mersiyanova, I V., et al. "Screening for Mutations in the Peripheral Myelin Genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth Neuropathy Patients." Human Mutation, vol. 15, no. 4, 2000, pp. 340-7.
Mersiyanova IV, Ismailov SM, Polyakov AV, et al. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum Mutat. 2000;15(4):340-7.
Mersiyanova, I. V., Ismailov, S. M., Polyakov, A. V., Dadali, E. L., Fedotov, V. P., Nelis, E., Löfgren, A., Timmerman, V., van Broeckhoven, C., & Evgrafov, O. V. (2000). Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Human Mutation, 15(4), 340-7.
Mersiyanova IV, et al. Screening for Mutations in the Peripheral Myelin Genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth Neuropathy Patients. Hum Mutat. 2000;15(4):340-7. PubMed PMID: 10737979.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. AU - Mersiyanova,I V, AU - Ismailov,S M, AU - Polyakov,A V, AU - Dadali,E L, AU - Fedotov,V P, AU - Nelis,E, AU - Löfgren,A, AU - Timmerman,V, AU - van Broeckhoven,C, AU - Evgrafov,O V, PY - 2000/3/29/pubmed PY - 2000/5/20/medline PY - 2000/3/29/entrez SP - 340 EP - 7 JF - Human mutation JO - Hum Mutat VL - 15 IS - 4 N2 - Charcot-Marie-Tooth disease (CMT) and related inherited peripheral neuropathies, including Dejerine-Sottas syndrome, congenital hypomyelination, and hereditary neuropathy with liability to pressure palsies (HNPP), are caused by mutations in three myelin genes: PMP22, MPZ and Cx32 (GJB1). The most common mutations are the 1.5 Mb CMT1A tandem duplication on chromosome 17p11.2-p12 in CMT1 patients and the reciprocal 1.5 Mb deletion in HNPP patients. We performed a mutation screening in 174 unrelated CMT patients and three HNPP families of Russian origin. The unrelated CMT patients included 108 clinically and electrophysiologically diagnosed CMT1 cases, 32 CMT2 cases, and 34 cases with unspecified CMT. Fifty-nine CMT1A duplications were found, of which 58 belonged to the CMT1 patient group. We found twelve distinct mutations in Cx32, six mutations in MPZ, and two mutations in PMP22. Of these respectively, eight, five, and two lead to a CMT1 phenotype. Eight mutations (Cx32: Ile20Asn/Gly21Ser, Met34Lys, Leu90Val, and Phe193Leu; MPZ: Asp134Gly, Lys138Asn, and Thr139Asn; PMP22: ValSer25-26del) were not reported previously. Phenotype-genotype correlations were based on nerve conduction velocity studies and mutation type. SN - 1059-7794 UR - https://www.unboundmedicine.com/medline/citation/10737979/Screening_for_mutations_in_the_peripheral_myelin_genes_PMP22_MPZ_and_Cx32__GJB1__in_Russian_Charcot_Marie_Tooth_neuropathy_patients_ L2 - https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<340::AID-HUMU6>3.0.CO;2-Y DB - PRIME DP - Unbound Medicine ER -