Charcot-Marie-Tooth Disease Type 1A – Association with a Spontaneous Point Mutation in the PMP22 Gene

New England Journal of Medicine

Volumn 329, Issue 2, 1993, Pages 96-101

  Roa, Benjamin B ^a   Garcia, Carlos A ^b   Suter, Ueli ^c,d   Kulpa, Deanna A ^a   Wise, Carol A ^a   Mueller, Jane ^b   Welcher, Andrew A ^c   Snipes, G Jackson ^c   Shooter, Eric M ^c   Patel, Pragna I ^a   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d ETH ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; DNA DETERMINATION; ELECTROPHYSIOLOGY; FEMALE; GENE DUPLICATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOTOR NERVE CONDUCTION; NUCLEOTIDE SEQUENCE; PATERNITY TEST; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHROMOSOMES, HUMAN, PAIR 17; DNA, ANTISENSE; GENE AMPLIFICATION; HUMAN; MALE; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; NUCLEIC ACID HETERODUPLEXES; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0027314668     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM199307083290205     Document Type: Article

References (44)

1. Charcot J-M, Marie P Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev Med 1886; 6:97-138
2. Tooth HH. The peroneal type of progressive muscular atrophy. London: H.K. Lewis, 1886.
3. Skre H Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974; 6:98-118
4. Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral neuropathy. 3rd ed. Vol. 2. Philadelphia: W.B. Saunders, 1992:1094-136.
5. Lupski JR, Garcia CA, Parry GJ, Patel PI. Charcot-Marie-Tooth polyneuropathy syndrome: clinical electrophysiologic and genetic aspects. In: Appel SH, ed. Current neurology. Vol. 11. Chicago: Year Book Medical, 1991:1-25.
6. Lupski JR, Garcia CA Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A. Brain Pathol 1992; 2:337-349
7. McKusick VA. Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 10th ed. Baltimore: Johns Hopkins University Press, 1992:211-6.
8. Vance JM, Nicholson GA, Yamaoka LH, Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol 1989; 104:186-189
9. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991; 66:219-232
10. Raeymaekers P, Timmerman V, Nelis E, Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). Neuromuscul Disord 1991; 1:93-97
11. Hoogendijk JE, Hensels GW, Gabreels-Festen AAWM, De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet 1992; 339:1081-1082
12. Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 1992; 2:292-300
13. Raeymaekers P, Timmerman V, Nelis E, Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). J Med Genet 1992; 29:5-11
14. MacMillan JC, Upadhyaya M, Harper PS Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. J Med Genet 1992; 29:12-13
15. Hallam PJ, Harding AE, Berciano J, Barker DF, Malcolm S Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1). Ann Neurol 1992; 31:570-572
16. Bellone E, Mandich P, Mancardi GL, Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families. J Med Genet 1992; 29:492-493
17. Lupski JR An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. Clin Res 1992; 40:645-652
18. Lupski JR, Wise CA, Kuwano A, Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992; 1:29-33
19. Chance PF, Bird TD, Matsunami N, Lensch MW, Brothman AR, Feldman GM Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A. Neurology 1992; 42:2295-2299
20. Roa BB, Garcia CA, Wise CA, et al. Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. In: Epstein CJ, ed. Phenotypic mapping of Down syndrome and other aneuploid conditions. New York: Wiley-Liss (in press).
21. Patel PI, Roa BB, Welcher AA, The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992; 1:159-165
22. Valentijn LJ, Bolhuis PA, Zorn I, The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet 1992; 1:166-170
23. Timmerman V, Nelis E, Van Hul W, The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1992; 1:171-175
24. Matsunami N, Smith B, Ballard L, Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet 1992; 1:176-179
25. Snipes GJ, Suter U, Welcher AA, Shooter EM Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol 1992; 117:225-238
26. Suter U, Welcher AA, Ozcelik T, Trembler mouse carries a point mutation in a myelin gene. Nature 1992; 356:241-244
27. Suter U, Moskow JJ, Welcher AA, A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc Natl Acad Sci U S A 1992; 89:4382-4386
28. Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA. Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology (in press).
29. White MB, Carvalho M, Derse D, O'Brien SJ, Dean M Detecting single base substitutions as heteroduplex polymorphisms. Genomics 1992; 12:301-306
30. Bordo D, Argos P Suggestions for “safe” residue substitutions in site-directed mutagenesis. J Mol Biol 1991; 217:721-729
31. Lupski JR, Pentao L, Williams LL, Patel PI Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. Am J Med Genet 1993; 45:92-96
32. Chance PF, Matsunami N, Lensch W, Smith B, Bird TD Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. Neurology 1992; 42:2037-2041
33. Chance PF, Alderson MK, Leppig KA, DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993; 72:143-151
34. McKusick VA. Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 10th ed. Baltimore: Johns Hopkins University Press, 1992:769-70.
35. Ptacek LJ, George AL Jr, Griggs RC, Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991; 67:1021-1027
36. Rojas CV, Wang JZ, Schwartz LS, Hoffman EP, Powell BR, Brown RH Jr A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature 1991; 354:387-389
37. McClatchey AI, Van den Bergh P, Pericak-Vance MA, Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 1992; 68:769-774
38. Ptacek LJ, George AL Jr, Barchi RL, Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 1992; 8:891-897
39. McInnes RR, Bascom RA Retinal genetics: a nullifying effect for rhodopsin. Nat Genet 1992; 1:155-157
40. Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet 1992; 1:209-213
41. Manfioletti G, Ruaro ME, Del Sal G, Philipson L, Schneider C A growth arrest-specific (gas) gene codes for a membrane protein. Mol Cell Biol 1990; 10:2924-2930
42. Olsson JE, Gordon JW, Pawlyk BS, Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron 1992; 9:815-830
43. Koch MC, Steinmeyer K, Lorenz C, The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992; 257:797-800
44. Valentijn LJ, Baas F, Wolterman RA, Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet 1992; 2:288-291