Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance

Human Genetics

Volumn 100, Issue 3-4, 1997, Pages 391-397

  Silander, Kaisa ^a   Meretoja, Päivi ^b   Pihko, Helena ^c   Juvonen, Vesa ^a   Issakainen, Jouni ^d   Aula, Pertti ^a   Savontaus, Marja Liisa ^a  

^a UNIVERSITY OF TURKU   (Finland)

^b TURKU UNIVERSITY HOSPITAL   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d Kinderklinik   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INHERITANCE; KARYOTYPE; KLINEFELTER SYNDROME; MALE; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; SCREENING; X CHROMOSOME LINKAGE;

CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; FEMALE; HUMANS; KARYOTYPING; LINKAGE (GENETICS); MALE; MUTATION; X CHROMOSOME;

EID: 0030930298     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050522     Document Type: Article

References (47)

1. Bergoffen J, Scherer SS, Wang S, Oronzi Scott M, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993a) Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262:2039-2042
2. Bergoffen J, Trofatter J, Pericak-Vance MA, Haines JL, Chance PF, Fischbeck KH (1993b) Linkage localization of X-linked Charcot-Marie-Tooth disease. Am J Hum Genet 52:312-318
3. Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, Fischbeck KH (1995) New connexin 32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurology 45:1863-1866
4. Cherryson AK, Yeung L, Kennerson ML, Nicholson GA (1994) Mutational studies in X-linked Charcot-Marie-Tooth disease. Am J Hum Genet 55: Abstract 1261, A216
5. Corcos IA, Lafrenière RG, Begy CR, Loch-Caruso R, Willard HF, Glover TW (1992) Refined localization of human connexin 32 gene locus, GJB1, to Xq 13.1. Genomics 13:479-480
6. Dyck PJ, Chance P, Lebo R, 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
7. Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AP, Haites NE (1994) Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Mol Genet 3:29-34
8. Gabreëls-Festen AAWM, Gabreëls FJM, Jennekens FGI (1993) Hereditary motor and sensory neuropathies: present status of types I, II and III. Clin Neurol Neurosurg 95:93-107
9. Gimlich RL, Kumar NM, Gilula NB (1988) Sequence and developmental expression of mRNA coding for a gap junction protein in Xenopus. J Cell Biol 107:1065-1072
10. Gupta S, Benstead T, Neumann P, Guernsey D (1996) A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy. Hum Mutat 8:375-376
11. Hahn AF (1993) Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN. Brain Pathol 3:147-155
12. Hahn AF, Brown WF, Koopman WJ, Feasby TE (1990) X-linked dominant hereditary motor and sensory neuropathy. Brain 113:1511-1525
13. Haites N, Fairweather N, Clark C, Kelly KF, Simpson S, Johnston AW (1989) Linkage in a family with X-linked Charcot-Marie-Tooth disease. Clin Genet 35:399-403
14. Harding AE, Thomas PK (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103:259-280
15. Hayasaka K, Himoro M, Wang Y, Takata M, Minoshima S, Shimizu N, Miura M, Uyemura K, Takada G (1993a) Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ). Genomics 17:755-758
16. 0 gene. Nat Genet 5:31-34
17. Hennemann H, Kozjek G, Dahl E, Nicholson B, Willecke K (1992) Molecular cloning of mouse connexin26 and -32: similar genomic organization but distinct promoter sequences of two gap junction genes. Eur J Cell Biol 58:81-89
18. Ionasescu VV, Trofatter J, Haines JL, lonasescu R, Searby C (1992) Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 42:903-908
19. Ionasescu V, Searby C, Ionasescu R (1994) Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mol Genet 3:355-358
20. Ionasescu V, Searby Ch, Ionasescu R, Meschino W (1995) New point mutations and deletions of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy. Neuromuscul Disord 5:297-299
21. lonasescu VV, Searby BS, Ionasescu R, Neuhaus IM, Werner R (1996a) Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 47:541-544
22. Ionasescu V, Ionasescu R, Searby C (1996b) Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy. Am J Med Genet 63:486-491
23. 0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet 5:35-39
24. Kumar NM, Gilula NB (1986) Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein. J Cell Biol 103:767-776
25. Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, Pentao L, Guzzeta 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
26. Milks LC, Kumar NM, Houghten R, Unwin N, Gilula NB (1988) Topology of the 32-kd liver gap junction protein determined by site-directed antibody localizations. EMBO J 7:2967-2975
27. Miller T, Dahl G, Werner R (1988) Structure of a gap junction gene: rat connexin-32. Biosci Rep 8:455-464
28. Nelis E, Van Broeckhoven C, et al (1996) Estimation of mutation frequency in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 4:25-33
29. Nelis E, Simokovic S, Timmerman V, Löfgren A, Backhovens H, De Jonghe P, Martin J-J, Van Broeckhoven C (1997) Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations. Hum Mutat 9:47-52
30. Nicholson G, Nash J (1993) Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 43:2558-2564
31. Orth U, Fairweather N, Exler M-C, Schwinger E, Gal A (1994) X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin 32. Hum Mol Genet 3:1699-1700
32. Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR (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
33. Paul DL (1995) New functions for gap junctions. Curr Opin Cell Biol 7:665-672
34. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA, Van Broeckhoven C (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMTla). Neuromuscul Disord 1:93-97
35. Raeymaekers P, Timmerman V, Nelis E, Van Hui W, De Jonghe P, Martin JJ, Van Broeckhoven C (1992) Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a. J Med Genet 29:5-11
36. Ressot C, Latour P, Blanquet-Grossard F, Sturtz F, Duthel S, Battin J, Corbillon E, Ollagnon E, Serville F, Vandenberghe A, Dautigny A, Pham-Dinh D (1996) X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene. Hum Genet 98:172-175
37. Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR (1993) Charcot-Marie-Tooth disease type 1A: association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329:96-101
38. Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meek JM, Magenis RE, Shaffer LG, Lupski JR (1996) Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy. Hum Genet 97:642-649
39. Rozear MP, Pericak-Vance MA, Fischbeck K, Stajich JM, Gaskell PC Jr, Krendel DA, Graham DG, Dawson DV, Roses AD (1987) Hereditary motor and sensory neuropathy, X-linked: a half century follow-up. Neurology 37:1460-1465
40. Schiavon F, Fracasso C, Mostacciuolo ML (1996) Novel missense mutation of the Connexin 32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mutat 8:83-84
41. Sorour E, Upadhyaya M (1996) Molecular analysis in Charcot-Marie-Tooth disease type 1. Eur J Hum Genet 4 Suppl 1: Abstract 5.085, 72
42. Tan CC, Ainsworth PJ, Hahn AF, MacLeod PM (1996) Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie-Tooth disease. Hum Mutat 7:167-171
43. Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Löfgren A, Nelis E, Vance J, Martin JJ, Van Broeckhoven C (1996) Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. Neurology 46:1311-1318
44. Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton VP Jr, Housman DE, Fischbeck KH, Ross DA, Nicholson GA, Meershoek EJ, Dauwerse HG, van Ommen G-JB, Baas F (1992a) The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet 1:166-170
45. Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NHA, Zorn I, Gabreëls-Festen AAWM, de Visser M, Bolhuis PA (1992b) Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet 2:288-291
46. 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
47. Yoshimura T, Ohnishi A, Yamamoto T, Fukushima Y, Kitani M, Kobayashi T (1996) Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families. Hum Mutat 8:270-272