Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35

American Journal of Human Genetics

Volumn 73, Issue 6, 2003, Pages 1423-1430

  Jordanova, Albena ^a,c   Thomas, Florian P ^d,e   Guergueltcheva, Velina ^c   Tournev, Ivailo ^c   Gondim, Francisco A A ^e   Ishpekova, Borjana ^c   De Vriendt, Els ^a   Jacobs, An ^a   Litvinenko, Ivan ^c   Ivanova, Neviana ^a,c   Buzhov, Borjan ^c   De Jonghe, Peter ^a,b   Kremensky, Ivo ^c   Timmerman, Vincent ^a,f  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

^e SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER; LYSOSOMAL ASSOCIATED MULTISPANNING MEMBRANE PROTEIN 5; MEMBRANE PROTEIN; SYNDECAN 3; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 1P; CLINICAL FEATURE; DEMYELINATION; DOMINANT INTERMEDIATE CHARCOT MARIE TOOTH NEUROPATHY; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOLOGY; HUMAN; INFANT; NERVE CONDUCTION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

EID: 9144242516     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/379792     Document Type: Article

References (45)

1. Adra CN, Zhu S, Ko JL, Guillemot JC, Cuervo AM, Kobayashi H, Horiuchi T, Lelias JM, Rowley JD, Lim B (1996)LAPTM5: a novel lysosomal-associated multispanning membrane protein preferentially expressed in hematopoietic cells. Genomics 35:328-337
2. Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED (2003) Glycyl tRNA Synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 72:1293-1299
3. Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance M, Vance JM (2002) Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 30:21-22
4. Ben Othmane K, Middleton LT, Loprest LJ, Wilkinson KM, Lennon F, Rozear MP, Stajich JM, Gaskell PC, Rosed AD, Pericak-Vance MA, Vance JM (1993) Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics 17:370-375
5. 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
6. Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Agid Y, Brice A, Bouche P (1998) X-linked Charcot-Marie-Tooth disease with connexin 32 (Cx32) point mutation: evidence of a primary axonal neuropathy in 48 cases. Neurology 50:1074-1082
7. Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR (2003) CMT4A: identification of a Hispanic GDAP1 founder mutation. Ann Neurol 53:400-405
8. Carey DJ (1996) N-syndecan: structure and function of a transmembrane heparan sulfate proteoglycan. Perspect Dev Neurobiol 3:331-346
9. Cottingham RW, Idury RM, Schäffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53:252-263
10. Cuesta A, Pedrola L, Sevilla T, Garcia-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marin I, Vilchez JJ, Palau F (2002) The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 30:22-25
11. Davis CJF, Bradley W, Madrid R (1978) The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. J Genet Hum 26:311-349
12. De Jonghe P, Mersiyanova IV, Nelis E, Del Favero J, Martin J-J, Van Broeckhoven C, Evgrafov OV, Timmerman V (2001) Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 49:245-249
13. De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Löfgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin J-J, Van Broeckhoven C (1999) The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 122:281-290
14. Dyck PJ, Thomas PK, Lambert EH, Bunge R (1993) Peripheral neuropathy, 3rd ed. W. B. Saunders, Philadelphia
15. Harding AE, Thomas PK (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103:259-280
16. Hayasaka K, Ohnishi A, Takada G, Fukushima Y, Murai Y (1993) Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1. Biochem Biophys Res Commun 194:1317-1322
17. Ionasescu VV, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R (1996) Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet 5:1373-1375
18. Ismailov SM, Fedotov VP, Dadali EL, Polyakov AV, Van Broeckhoven C, Ivanov VI, De Jonghe P, Timmerman V, Evgrafov OV (2001) A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Eur J Hum Genet 9:646-650
19. Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Butler I, Mancias P, Papasozomenos SCH, Terespolski D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V (2003) Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126:590-597
20. Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Geogieva V, Middleton L, Thomas PK (1996) Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet 14:214-217
21. Kennerson ML, Zhu D, Gardner RJM, Storey E, Merory J, Robertson SP, Nicholson GA (2001) Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. Am J Hum Genet 69:883-888
22. Klein CJ, Cunningham JM, Atkinson EJ, Schaid DJ, Hebbring SJ, Erson SA, Klein DM, Dyck PJ, Litchy WJ, Thibodeau SN, Dyck PJ (2003) The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology 60:1151-1156
23. Lathrop GM, Lalouel J-M (1984) Easy calculations of lod scores genetic risk on small computers. Am J Hum Genet 36:460-465
24. Lupski JR, Montes de Oca-Luna 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 66:219-239
25. Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG (1999) Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 67:174-179
26. Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Müller HW, Bird TD, White R, Chance PF (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet 1:176-179
27. Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV (2000) A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 67:37-46
28. Muglia M, Zappia M, Timmerman V, Valentino P, Gabriele AL, Conforti L, De Jonghe P, Ragno M, Mazzei R, Sabatelli M, Nicoletti G, Patitucci AM, Oliveri RL, Bono F, Gambardella A, Quattrone A (2001) Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy. Neurology 56:100-103
29. Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van G, V, Cuesta A, Pedrola L, Palau F, Gabreels-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V (2002) Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 59:1865-1872
30. Ott J (1989) Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 86:4175-4178
31. 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. Nat Genet 1:159-165
32. Pericak-Vance MA, Speer MC, Lennon F, West SG, Menold MM, Stajich JM, Wolpert CM, Slotterbeck BD, Saito M, Tim RW, Rozear MP, Middleton LT, Tsuji S, Vance JM (1997) Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics 1:89-93
33. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin J-J, de Visser M, Bolhuis PA, Van Broeckhoven C, HMSN Collaborative Research Group (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). Neuromusc Disord 1:93-97
34. Saito M, Hayashi Y, Suzuki T, Tanaka H, Hozumi I, Tsuji S (1997) Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. Neurology 49:1630-1635
35. Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Schöneborn S, Zerres K, Schröder JM (2003) Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain 126:642-649
36. Skre H (1974) Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 6:98-118
37. Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF (2003) Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 60:22-26
38. Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, De Jonghe P, Raeymaekers P, van Ommen G-JB, Martin J-J, Müller HW, Vance JM, Fischbeck KH, Van Broeckhoven C (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1:171-175
39. Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NHA, Zorn I, Gabreëls-Festen AAWM, de Visser M, Bolhuis PA (1992a) Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet 2:288-291
40. Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton V Jr, Housman DE, Fischbeck KH, Ross DA, Nicholson GA, Meershoek EJ, Dauwerse HG, van Ommen G-JB, Baas F (1992b) The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet 1:166-170
41. Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Smedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung H-P, Timmerman V (2003) Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 72:722-727
42. Verhoeven K, Villanova M, Rossi A, Malandrini A, De Jonghe P, Timmerman V (2001) Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am J Hum Genet 69:889-894
43. Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob G, Lupski JR (1998) Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 18:382-384
44. Weeks DE, Ott J, Lathrop GM (1990) SLINK: a general simulation program for linkage analysis. Am J Hum Genet Suppl 47:A204
45. Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S, Wei Yang H, Terada S, Nakata T, Takei Y, Saito M, Tsuji S, Hayashi Y, Hirokawa N (2001) Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B. Cell 105:587-597