Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy

American Journal of Medical Genetics

Volumn 63, Issue 3, 1996, Pages 486-491

  Ionasescu, Victor ^a   Ionasescu, Rebecca ^a   Searby, Charles ^a  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

Charcot Marie Tooth neuropathy; connexin 32 gene; mutations

Indexed keywords

GAP JUNCTION PROTEIN;

ARTICLE; CHROMOSOME XQ; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE INSERTION; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; X CHROMOSOME DOMINANT INHERITANCE;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; X CHROMOSOME;

EID: 0029977888     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960614)63:3<486::AID-AJMG14>3.0.CO;2-I     Document Type: Article

References (25)

1. Beckett J, Holden NE, Simpson BN, White BN, MacLeod PM (1986): Localization of X-linked dominant Charcot-Marie-Tooth disease to Xq13. J Neurogenet 3:225-231.
2. Bergoffen J, Trofatter J, Pericak-Vance MA, Haines JL, Chance PF, Fischbeck KH (1993a): Linkage localization of X-linked Charcot-Marie-Tooth disease. Am J Hum Genet 52:312-318.
3. Bergoffen J, Scherer SS, Wang S, Orozni Scott M, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993b): Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262:2039-2042.
4. Bruzzone R, White TW, Scherer SS, Fischbeck KH, Paul DL (1994): Null mutations of connexin 32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron 13:1253-1260.
5. Charcot JM, Marie P (1886): Sur une forme particulière d'atrophie musculaire progressive souvent familiale debutant par les pieds et les jambes et atteignant plus tard les mains. Rev Med 6:97-138.
6. Dahl G, Werner R, Levine E, Rabadan-Diehl C (1992): Mutational analysis of gap junction formation. Biophys J 62:187-195.
7. Dyck PJ, Lambert EH (1968): Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 18:603-618.
8. Dyck PJ, Chance PF, Lebo RV, Carney JA (1993): Hereditary motor and sensory neuropathies. In Dyck PJ, Thomas PJ, Griffin JW, Low PA, Poduslo JF (eds): "Peripheral Neuropathy," 3rd edition. Philadelphia: Saunders, pp 1094-1136.
9. 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. Hum Mol Genet 3:29-34.
10. Fischbeck KH, Ar-Rushdi N, Pericak-Vance M, Rozear M, Roses AD, Fryns JP (1986): X-linked neuropathy: Gene localization with DNA probes. Ann Neurol 20:527-532.
11. Gal A, Mucke J, Theile H, Wieacker PF, Ropers HH, Wienker TF (1985): X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq. Hum Genet 70:38-42.
12. Goonewardena P, Welinhinda J, Anvret M, Gyftodimou J, Haegermark A, Iselius L, Linksten J, Petersson U (1988): A linkage study of the locus for X-linked Charcot-Marie-Tooth disease. Clin Genet 33:435-440.
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. Ionasescu V, Burns TL Searby Ch, Ionasescu R (1988): X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family: Genetic linkage study. Muscle Nerve 11:1154-1156.
15. Ionasescu V, Trofatter J, Haines JL, Ionasescu R, Searby Ch (1992): Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 42:903-908.
16. Ionasescu V, Searby Ch, Ionasescu R (1994): Point mutations of the connexin 32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mol Genet 2:355-358.
17. Ionasescu V (1995a): Charcot-Marie-Tooth neuropathies: From clinical description to molecular genetics. Muscle Nerve 18:267-275.
18. Ionasescu V, Searby Ch, Ionasescu R, Meschino W (1995b): New mutations and deletions of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy. Neuromusc Disord 5: 297-299.
19. Kunkel LM, Tantravahi V, Eisenhard M, Latt SA (1982): Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. Nucl Acid Res 10:1557-1578.
20. Lathrop GM, Lalouel JM, Julier C, Ott J (1984): Strategies for multi-locus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446.
21. Mostacciuolo NE, Miller E, Fardin P, Micaglio GF, Bardoni B, Guioli S, Camerino G, Danieli GA (1991): X-linked Charcot-Marie-Tooth disease: A linkage study in a large family using 12 probes of the pericentromeric region. Hum Genet 87:23-27.
22. Pericak-Vance M, Barker DF, Bergoffen JA, Chance P, Cochrane S, Dahl N, Exier MC, Fain PR, Fairweather ND, Fischbeck K, Gal A, Haites N, Ionasescu R, Ionasescu V, Kennerson ML, Monaco AP, Mostacciuolo RIL, Nicholson GA, Sillen A, Haines JL (1995):-Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin 32 is the defect in CMTX1. Hum Hered 45:121-128.
23. Rabadan-Diehl C, Dahl G, Werner R (1994): A connexin 32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes. FEBS Let 351:90-94.
24. Tooth HH (1886): "The Peroneal Type of Progressive Muscular Atrophy." London: H K Lewis & Co.
25. Werner R, Rabadan-Diehl C, Levine E, Dahl G (1993): "Affinities Between Connexins. Progress in Cell Research." New York: Elsevier Science, pp 21-24.