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Genetic basis of inherited peripheral neuropathies.
Hum Mutat. 1994; 3(2):95-102.HM

Abstract

Progress in the elucidation of the genetic basis for inherited peripheral neuropathies has been remarkable over the last years. In particular, the molecular mechanisms underlying the autosomal dominantly inherited disorders Charcot-Marie-Tooth disease type 1A (CMT1A), Charcot-Marie-Tooth disease type 1B (CMT1B), and hereditary neuropathy with liability to pressure palsies (HNPP) have been determined. While mutation in the gene encoding the major myelin protein, P0 has been associated with CMT1B, CMT1A and HNPP have been shown to be associated with reciprocal recombination events leading either to a large submicroscopic duplication in CMT1A, or the corresponding DNA deletion in HNPP. Available evidence is consistent with the hypothesis that one or more genes within the relevant rearranged segment of 1.5 Mb on chromosome 17 is sensitive to gene dosage providing a novel mechanism for inherited human disorders. It is likely that the gene encoding the peripheral myelin protein PMP22 is at least one of the genes involved since the PMP22 gene maps within the CMT1A duplication (or HNPP deletion), and point mutations within it have been shown to cause a CMT phenotype in humans and comparable neuropathies in rodents (trembler and tremblerJ). The mechanism(s) by which gene dosage and point mutations affecting the same gene might lead to a similar phenotype are currently unknown but recent transgenic mouse experiments suggest that similar mechanisms may also underlie other genetic diseases.

Authors+Show Affiliations

Institute for Cell Biology, ETH-Honggerberg, Zurich, Switzerland.No affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Review

Language

eng

PubMed ID

7515304

Citation

Suter, U, and P I. Patel. "Genetic Basis of Inherited Peripheral Neuropathies." Human Mutation, vol. 3, no. 2, 1994, pp. 95-102.
Suter U, Patel PI. Genetic basis of inherited peripheral neuropathies. Hum Mutat. 1994;3(2):95-102.
Suter, U., & Patel, P. I. (1994). Genetic basis of inherited peripheral neuropathies. Human Mutation, 3(2), 95-102.
Suter U, Patel PI. Genetic Basis of Inherited Peripheral Neuropathies. Hum Mutat. 1994;3(2):95-102. PubMed PMID: 7515304.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic basis of inherited peripheral neuropathies. AU - Suter,U, AU - Patel,P I, PY - 1994/1/1/pubmed PY - 1994/1/1/medline PY - 1994/1/1/entrez SP - 95 EP - 102 JF - Human mutation JO - Hum Mutat VL - 3 IS - 2 N2 - Progress in the elucidation of the genetic basis for inherited peripheral neuropathies has been remarkable over the last years. In particular, the molecular mechanisms underlying the autosomal dominantly inherited disorders Charcot-Marie-Tooth disease type 1A (CMT1A), Charcot-Marie-Tooth disease type 1B (CMT1B), and hereditary neuropathy with liability to pressure palsies (HNPP) have been determined. While mutation in the gene encoding the major myelin protein, P0 has been associated with CMT1B, CMT1A and HNPP have been shown to be associated with reciprocal recombination events leading either to a large submicroscopic duplication in CMT1A, or the corresponding DNA deletion in HNPP. Available evidence is consistent with the hypothesis that one or more genes within the relevant rearranged segment of 1.5 Mb on chromosome 17 is sensitive to gene dosage providing a novel mechanism for inherited human disorders. It is likely that the gene encoding the peripheral myelin protein PMP22 is at least one of the genes involved since the PMP22 gene maps within the CMT1A duplication (or HNPP deletion), and point mutations within it have been shown to cause a CMT phenotype in humans and comparable neuropathies in rodents (trembler and tremblerJ). The mechanism(s) by which gene dosage and point mutations affecting the same gene might lead to a similar phenotype are currently unknown but recent transgenic mouse experiments suggest that similar mechanisms may also underlie other genetic diseases. SN - 1059-7794 UR - https://www.unboundmedicine.com/medline/citation/7515304/Genetic_basis_of_inherited_peripheral_neuropathies_ L2 - https://doi.org/10.1002/humu.1380030203 DB - PRIME DP - Unbound Medicine ER -