Mutations of the same sequence of the myelin P0 gene causing two different phenotypes
Federica Schiavon
Laboratorio di Genetica Umania, Dipartimento di Biologia, Università di Padova, Padova, Italia
Search for more papers by this authorAlessandra Rampazzo
Laboratorio di Genetica Umania, Dipartimento di Biologia, Università di Padova, Padova, Italia
Search for more papers by this authorCorrado Angelini
Clinica delle Malattie Nervose e Mentali, Università di Padova, Padova, Italia
Search for more papers by this authorCorresponding Author
Maria L. Mostacciuolo
Laboratorio di Genetica Umania, Dipartimento di Biologia, Università di Padova, Padova, Italia
Dipartimento di Biologia, Università di Padova, via Trieste, 75, 35121 Padova, Italia; Fax: 39 49 8276209Search for more papers by this authorFederica Schiavon
Laboratorio di Genetica Umania, Dipartimento di Biologia, Università di Padova, Padova, Italia
Search for more papers by this authorAlessandra Rampazzo
Laboratorio di Genetica Umania, Dipartimento di Biologia, Università di Padova, Padova, Italia
Search for more papers by this authorCorrado Angelini
Clinica delle Malattie Nervose e Mentali, Università di Padova, Padova, Italia
Search for more papers by this authorCorresponding Author
Maria L. Mostacciuolo
Laboratorio di Genetica Umania, Dipartimento di Biologia, Università di Padova, Padova, Italia
Dipartimento di Biologia, Università di Padova, via Trieste, 75, 35121 Padova, Italia; Fax: 39 49 8276209Search for more papers by this author
References
- Bird TD, Ott J, Giblett ER (1982) Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet 34: 388–394.
- Blanquet-Grossard F, Pham-Dinh D, Dautigny A, Latour P, Bonnebouche C, Corbillon E, Chazot G, Vanderberghe A (1995) Charcot-Marie-Tooth type 1B neuropathy: Third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene. Clin Genet 48: 281–283.
- Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N (1993a) De novo mutation of the myelin P0 gene in Degerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nature Genet 5: 266–268.
- Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimuzi N, Bird TD, Conneally M, Chance P (1993b) Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nature Genet 5: 31–34.
- Hoogendijk JE, Hansel GW, Gabreels-Festen AAW, Janssen EAM, De Jonghe P, Martin JJ, Van Broeckhoven C, Valentijn LJ, Baas F, de Visser M, Bolhuis P (1992) De-novo mutations in hereditary motor and sensory neuropathy type 1. Lancet 339: 1081–1082.
- Latour P, Blanquet F, Nelis E, Bonnebouche C, Chapon F, Diraison P, Ollagnon E, Dautigny A, Pham-Dinh D, Chazot G, Boucherat M, Van Broechoven C, Vandenberghe A (1995) Mutations in the myelin protein gene associated with Charcot-Marie-Tooth disease type 1B. Hum Mutat 6: 50–54.
- Lemke G, Axel R (1985) Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. Cell 40: 501–508.
- Lupsky JR, de Oca-Luna Montes R, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1a. Cell 66: 219–232.
- Nelis E, Timmerman V, De Jonghe P, Vandenberghe A, Pham-Dinh D, Dautigny A, Martin JJ, Van Broeckhoven (1994) Rapid screening of myelin genes in CMT1 patients by SSCP anaylsis: Identification of new mutations and polymorphisms in the P0 gene. Hum Genet 94: 653–657.
- Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupsky JR, Suter U (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet 1: 159–165.
- Rautenstrauss B, Nelis E, Grehl H, Pfeiffer RA, Van Broeckhoven C (1994) Identification of a de novo insertional mutation in P0 in a patient with a Dejerine-Sottas syndrome (DSS) phenotype. Hum Mol Genet 3: 1701–1702.
- Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupsky JR (1993a) Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP-22 gene. N Engl J Med 329: 96–101.
- Roa BB, Dyck PJ, Marks HG, Chance PF, Lupsky JR (1993b) Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP-22) gene. Nature Genet 5: 267–273.
- Skre F (1974) Genetic and clinical aspects of Charcot-Marie-Tooth disease. Clin Genet 6: 98–118.
- Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NHA Zorn I, Gabreels-Festen AAWM, de Visser M, Bolhuis PA (1992) Identical point mutation of PMP-22 in Trembler-J mouse and Charcot-Marie-tooth disease type 1A. Nature Genet 2: 288–291.