Novel missense mutation of the Connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy

Human Mutation

Volumn 8, Issue 1, 1996, Pages 83-84

  Schiavon, Federica ^a   Fracasso, Cinzia ^a   Mostacciuolo, Maria L ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION PROTEIN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY STUDY; FEMALE; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; ITALY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; X CHROMOSOME DOMINANT DISORDER;

CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; FEMALE; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; X CHROMOSOME;

EID: 0029891273     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:1<83::AID-HUMU14>3.0.CO;2-N     Document Type: Article

References (14)

1. Bennett MVL, Barrio LC, Bargiello TA, Spray DC, Hertzberg E, Saez JC (1991) Gap junctions: New tools, new answers, new questions. Neuron 6: 305-320.
2. Bergoffen J, Scherer JSS, 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: 2039-2041.
3. Dyck PJ (1984) Inherited degeneration and atrophy affecting motor, sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Lambert EH, Bunge R (eds) Peripheral Neuropathy, 2nd ed. Philadelphia: Saunders, pp 1600-1642.
4. Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AP, Haites NE (1994) Mutations in the connexin 32 gene. Hum Mol Genet 3 (1): 29-34.
5. Gal A, Mucke J, Theile H, Wieacker PF, Ropers HH and 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.
6. Ionasescu V, Searby C, Ionasescu R. (1994) Point mutations of the connexin32 (GJBI) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mol Genet 3 (2): 355-358.
7. 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.
8. Makowski L, Casper D, Phillips WC, Goodenough DA (1977) Gap junction structures. J Cell Biol 74: 629-645.
9. 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 (10): 2967-2975.
10. Orth U, Fairweather N, Exler MC, Schwinger E, Gal A (1994) X-linked dominant Charcot-Marie-Tooth neuropathy: Valine-38-methionine substitution of connexin32. Hum Mol Genet 3 (9): 1699-1700.
11. Pericak-Vance MA, et al. (1994) Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMT X1). Additional support that connexin is the defect in CMTX1. Hum Hered (in press).
12. Roa BB, Garcia CA, Suter U, et al. (1993) CHARCOT-MARIE-TOOTH DISEASE TYPE 1A. Association with a Spontaneous Point Mutation in the PMP22 Gene. N Engl J Med 329: 96-101.
13. Schiavon F, Mostacciuolo ML, Saad F, Merlini L, Siciliano G, Angelini C, Danieli GA (1994) Non radioactive detection of 17p11.2 duplication in CMT1A: A study of 78 patients. J Med Genet 31:880-883.
14. Schlessinger D, Mandel J, Monaco AP, Nelson DL and Willard HF (1993) Report of the Fourth International Workshop on human X chromosome mapping 1993. Cytogenet Cell Genet. 64: 148-163.