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Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP) - Human Genetics

  • ️Van Broeckhoven, Christine
  • ️Mon Jan 01 1996

References

  • Bergoffen J, Scherer SS, Wang S, Oronzi Scott M, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993) Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262:2039–2042

    Google Scholar 

  • Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Distsche CM, Bird TD (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72:143–151

    Google Scholar 

  • Chance PF, Abbas N, Lensch NW, Pentao L, Roa BB, Patel PI, Lupski JR (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3:223–228

    Google Scholar 

  • Chevillard C, Le Paslier D, Passage E, Ougen P, Billault A, Boyer S, Mazan S, Bachellerie JP, Vignal A, Cohen D, Fontes M (1993) Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions snU3 may be a candidate gene for the Smith-Magenis syndrome. Hum Mol Genet 2:1235–1243

    Google Scholar 

  • Chu G, Vollrath D, Davis RW (1986) Separation of large DNA molecules by contour-clamped homogeneous electric field. Science 234:1582–1585

    Google Scholar 

  • Church GM, Gilbert W (1984) Genomic sequencing. Proc Natl Acad Sci USA 81:1991–1995

    CAS  PubMed  Google Scholar 

  • Cudrey C, Chevillard C, Le Paslier D, Vignal A, Passage E, Fontes M (1995) Assignment of microsatellite sequences to the region duplicated in CMT1A (17p112): a useful tool for diagnosis. J Med Genet 32:231–233

    Google Scholar 

  • Davies DM (1954) Recurrent peripheral nerve palsies in a family. Lancet August 7:266–268

    Google Scholar 

  • Debruyne J, Dehaene I, Martin J-J (1980) Hereditary pressure sensitive neuropathy. J Neurol Sci 47:385–394

    Google Scholar 

  • De Jong JGY (1947) Over families met Hereditaire dispositie tot het optreden van neuritiden, gecorreleerd met migraine. Psychiatr Neurol Bladen 50:60–76

    Google Scholar 

  • Dunnen JT den, Liang P, Van Ommen GJB, Van Broeckhoven C (1995) Mutation detection and diagnosis using PFGE. In: Monaco AP (ed) Pulsed field gel electrophoresis: a practical approach. University Press, Oxford

    Google Scholar 

  • Dyck PJ, Chance PE, Lebo RV, Carney JA (1993) Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds) Peripheral neuropathy. Saunders, Philadelphia, pp 1094–1136

    Google Scholar 

  • Fairweather N, Bell C, Cochrane S, Chelly L, Wang S, Mostacciuolo ML, Monaco MP, Haites NE (1994) Mutations in the connexin 32 gene in X-linked Charcot-Marie-Tooth disease (CMTX1). Hum Mol Genet 3:29–31

    Google Scholar 

  • Hanemann CO, Stoll G, D'Urso D, Fricke W, Martin J-J, Van Broeckhoven C, Mancardi GL, Bartke I, Müller HW (1994) Peripheral myelin protein 22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies. J Neurosci Res 37:654–659

    Google Scholar 

  • Hayasaka K, Ohnishi A, Takada G, Fukushima Y, Murai Y (1993a) Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1. Biochem Biophys Res Commun 194:1317–1322

    Google Scholar 

  • Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF (1993b) Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nature Genet 5:31–34

    Google Scholar 

  • Hayasaka K, Takada G, Ionasescu V (1993c) Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B. Hum Mol Genet 2:1369–1372

    Google Scholar 

  • Himoro M, Yoshikawa H, Matsui T, Mitsui Y, Takahashi M, Kaido M, Nishimura T, Sawaishi Y, Takada G, Hayasaka K (1993) New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy type 1. Biochem Mol Biol Int 31:169–173

    Google Scholar 

  • Hoogendijk JE, Hensels GW, Gabreëls-Festen AA, Gabreëls FJM, Janssen EAM, De Jonghe P, Martin J-J, Van Broeckhoven C, Valentijn LJ, Baas F, Visser M de, Bolhuis PA (1992) De novo mutation in hereditary motor and sensory neuropathy type 1. Lancet 339:1081–1082

    Google Scholar 

  • Ionasescu VV, Ionasescu R, Searby C (1993) Screening of dominantly inherited Charcot-Marie-Tooth neuropathies. Muscle Nerve 16:1232–1238

    Google Scholar 

  • Ionasescu V, Searby C, Ionasescu R (1994) Point mutations of the connexin 32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mol Genet 3:355–358

    Google Scholar 

  • Kulkens T, Bolhuis P, Wolterman RA, Kemp S, Nijenhuis S te, Valentijn LJ, Hensels GW, Jennekens FGI, Visser M de, Hoogendijck JE, Baas F (1993) Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nature Genet 5:35–39

    Google Scholar 

  • Lebo RV, Martelli L, Su Y, Lynch E, Mansfield E, Pua KH (1993) Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by multicolor in situ hybridization. Am J Med Genet 47:441–450

    Google Scholar 

  • Le Guern E, Sturz F, Gugenheim M, Gouider R, Bonnebouche C, Ravisé N, Gonnaud P-M, Tardieu S, Bouche P, Chazot G, Agid Y, Vandenberghe A, Brice A (1994) Detection of deletion within 17p112 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP). Cytogenet Cell Genet 65:261–264

    Google Scholar 

  • Lorenzetti D, Pareyson D, Sghirlanzoni A, Roa BB, Abbas NE, Pandolfo M, Di Donato S, Lupski J (1995) A 15 Mb deletion in 17p112-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet 56:91–98

    Google Scholar 

  • Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, Killian JM, Garcia CA, Chakravarti A, Patel PI (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1a. Cell 66:19–232

    Google Scholar 

  • Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millaseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994) The 1993–1994 Généthon human genetic linkage map. Nature Genet 7:246–339

    Google Scholar 

  • Mariman ECM, Gabreëls-Festen AAWM, Beersum SEC van, Jongen PJH, Ropers HH, Gabreëls FJM (1993) Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1. Hum Genet 92:87–90

    Google Scholar 

  • Mariman ECM, Gabreëls-Festen AAWM, Beersum SEC van, Jongen PJH, Looij E van de, Baas F, Bolhuis P, Ropers HH, Gabreëls FJM (1994a) Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies. Hum Genet 93:151–156

    Google Scholar 

  • Mariman ECM, Gabreëls-Festen AAWM, Beersum SEC van, Valentijn LJ, Baas F, Bolhuis PA, Jongen PJH, Ropers HH, Gabreëls FJM (1994b) Prevalence of the 15 Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann Neurol 36:650–655

    Google Scholar 

  • Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen A, Hanemann OC, Müller HW, Bird TD, White R, Chance PF (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p112 associated with Charcot-Marie-Tooth 1A. Nature Genet 1:176–179

    Google Scholar 

  • Nelis E, Timmerman V, De Jonghe P, Van Broeckhoven C (1994a) Identification of a 5′ splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1. Hum Mol Genet 3:515–516

    Google Scholar 

  • Nelis E, Timmerman V, De Jonghe P, Muylle L, Martin J-J, Van Broeckhoven C (1994b) Linkage mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. J Med Genet 31:811–815

    Google Scholar 

  • Nelis E, Timmerman V, De Jonghe P, Vandenberghe A, Pham-Dinh D, Dautigny A, Martin J-J, Van Broeckhoven C (1994c) Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. Hum Genet 94:653–657

    Google Scholar 

  • Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, Mcleod JG, Bolhuis PA, Baas F (1994) A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nature Genet 6:263–266

    Google Scholar 

  • Nieuwenhuijsen BW, Chen KL, Chinault AC, Wang S, Valmiki VH, Meershoek EJ, Ommen G-JB van, Fischbeck KH (1992) A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region. Hum Mol Genet 1:605–612

    Google Scholar 

  • Palau F, Löfgren A, De Jonghe P, Bort S, Nelis E, Sevilla T, Martin J-J, Vilchez J, Prieto F, Van Broeckhoven C (1993) Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum Mol Genet 2:2031–2035

    Google Scholar 

  • Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski 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

    Google Scholar 

  • Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 15 Mb monomer unit. Nature Genet 2:292–300

    Google Scholar 

  • Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin J-J, Visser M de, Bolhuis P, Broeckhoven C van, HMSN Collaborative Research Group (1991) Duplication in chromosome 17p112 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). Neuromuscul Disord 1:93–97

    Google Scholar 

  • Raeymaekers P, Timmerman V, Nelis E, Hul W van, Jonghe P de, Martin J-J, Broeckhoven C van, HMSN Collaborative Research Group (1992) Estimation of the size of the chromosome 17p112 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). J Med Genet 29:5–11

    Google Scholar 

  • Reisecker R, Leblhuber F, Lexner R, Radner G, Rosenkranz W, Wagner K (1994) A sporadic form of hereditary neuropathy with liability tot pressure palsies: clinical electrodiagnostic, and molecular genetic findings. Neurology 44:753–755

    Google Scholar 

  • Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR (1993a) Charcot-Marie-Tooth type 1A: association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329:96–101

    Google Scholar 

  • Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR (1993b) Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nature Genet 5:189–194

    Google Scholar 

  • Schwengel DA, Jedlicka AE, Nanthakumar EJ, Weber JL, Levitt RC (1994) Comparison of fluorescence-based semi-automated genotyping of multiple microsatellite loci with autoradiographic techniques. Genomics 22:46–54

    Google Scholar 

  • Silander K, Halonen P, Sara R, Kalimo H, Falck B, Savontaus M-J (1994) DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP). J Neurol Neurosurg Psychiatry 57:1260–1262

    Google Scholar 

  • Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, Jonghe P de, Raeymaekers P, Ommen GJB van, Martin J-J, Müller HW, Vance JM, Fischbeck KH, Broeckhoven C van (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nature Genet 1:171–175

    Google Scholar 

  • Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, Bosch N van den, Hensels GW, Stanton VP, Housman DE, Fischbeck KH, Ross DA, Nicholson GA, Meershoek EJ, Dauwerse HG, Ommen G-JB van, Baas F (1992a) The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genet 1:166–170

    Google Scholar 

  • Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, Bosch NHA van den, Zorn I, Gabreels-Festen AAWM, Visser M de, Bolhuis PA (1992b) Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nature Genet 2:288–291

    Google Scholar 

  • Valentijn LJ, Baas F, Zorn I, Hensels GW, Visser M de, Bolhuis PA (1993) Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A. Hum Mol Genet 2:2143–2146

    Google Scholar 

  • Verhalle D, Löfgren A, Nelis E, Dehaene I, Theys P, Lammens M, Dom R, Van Broeckhoven C, Robberecht W (1994) Deletion in the CMT1A locus on chromosome 17p112 in hereditary neuropathy with liability to pressure palsies. Ann Neurol 35:704–708

    Google Scholar 

  • Windebank AJ (1993) Inherited recurrent focal neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds) Peripheral neuropathy. Saunders, Philadelphia, pp 1137–1148

    Google Scholar 

  • Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR (1993) Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication. Am J Hum Genet 53:853–863

    Google Scholar 

  • Weber LJ, Kwitek AE, May PE, Wallace MR, Collins FS, Ledbetter DH (1990) Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci. Nucleic Acids Res 18:4640

    Google Scholar 

  • Wright EC, Goldgar DE, Fain PR, Barker DF, Skolnick MH (1990) A genetic map of human chromosome 17p. Genomics 7:103–109

    Google Scholar 

  • Yoshikawa H, Nishimura T, Nakatsuji Y, Fujimura H, Himoro M, Hayasaka K, Sakoda S, Yanagihara T (1994) Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann Neurol 35:445–450

    Google Scholar 

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