Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease

Journal of Medical Genetics

Volumn 33, Issue 5, 1996, Pages 413-415

  Oterino, Agustín ^a,c   Montón, Fernando I ^a   Cabrera, Vicente M ^b   Pinto, Francisco ^b   Gonzalez, Ana ^b   Lavilla, Nuria R ^a  

^a HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

^b UNIVERSIDAD DE LA LAGUNA   (Spain)

^c HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

Author keywords

Connexin32; Gap junction; X linked Charcot Marie Tooth neuropathy

Indexed keywords

ARGININE; GAP JUNCTION PROTEIN; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; MALE; POINT MUTATION; PRIORITY JOURNAL; RESTRICTION SITE; X CHROMOSOME DOMINANT INHERITANCE;

EID: 0029968326     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.5.413     Document Type: Article

References (17)

1. Pericak-Vance MA, Barker DF, Bergoffen J, et al. Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1. Hum Hered 1995;45:121-8.
2. Bergoffen J, Scherer SS, Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993;262:2039-42.
3. Ionasescu V, Searby C, Ionasescu R. Point mutations of the connexin-32 (GJβ1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mol Genet 1994;3:355-8.
4. Fairweather N, Bell C, Cochrane S et al. Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Mol Genet 1994;3:29-34.
5. Orth U, Fairweather N, Exler MC, Schwinger E, Gal A. X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin 32. Hum Mol Genet 1994;3:1699-700.
6. Ionasescu V, Searby Ch, Ionasescu R, Meschino W. Newpoint mutations and deletions of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy. Neuromusc Disord 1995;4:297-9.
7. Kaneshige T, Tagaki K, Nakamura S, et al. Genetic analysis using fingernail DNA. Nucleic Acids Res 1992;20:5489-90.
8. Ishizawa M, Kobayashi Y, Miyamura T, Matsuura S. Simple procedure of DNA isolation from human serum. Nucleic Acids Res 1991;19:5792.
9. Weber JL, Kwitek AE, May PE, Polymeropoulos MH, Ledbetter S. Dinucleotide repeat polymorphism at the DXS453, DXS454 and DXS458 loci. Nucleic Acids Res 1990;18:4037.
10. Browne DL, Zonana J, Litt M. Dinucleotide repeat polymorphism at the PGK1P1 locus. Nucleic Acids Res 1992;20:1169.
11. Browne DL, Zonana J, Litt M. Dinucleotide repeat polymorphism at the PGK1 locus. Nucleic Acids Res 1991;19:1721.
12. Yap EPH, McGee JOD. Nonisotopic discontinuous phase single strand conformation polymorphism (DP-SSCP): genetic profiling of D-loop of human mitochondrial (mt) DNA. Nucleic Acids Res 1993;21:4155.
13. Kumar NM, Gilula NB. Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein. J Cell Biol 1986;103:767-6.
14. Combarros O, Calleja J, Polo JM, Berciano J. Prevalence of hereditary motor and sensory neuropathy in Cantabria. Acta Neurol Scand 1987;75:9-12.
15. Skre J. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974;6:98-118.
16. Nicholson G, Nash J. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 1993;43:2558-64.
17. Suchyna TM, Xu LX, Gal F, Fourtner CR, Nicholson BI. Identification of proline residue as a traduction element involved in voltage gating of gap junctions. Nature 1993;365:847-9.