Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1
Tohru Ikegami
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
Search for more papers by this authorChangqing Lin
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
Search for more papers by this authorMitsuhiro Kato
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
Search for more papers by this authorAiko Itoh
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
Search for more papers by this authorIkuya Nonaka
Division of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
Search for more papers by this authorMasayuki Kurimura
Third Department of Internal Medicine, Yamagata University School of Medicine, Yamagata, Japan
Search for more papers by this authorHisayuki Hirayabashi
Department of Neurology, Tokai University School of Medicine, Kanagawa, Japan
Search for more papers by this authorYukito Shinohara
Department of Neurology, Tokai University School of Medicine, Kanagawa, Japan
Search for more papers by this authorAtsuko Mochizuki
Department of Neurology, Teikyo University School of Medicine, Tokyo, Japan
Search for more papers by this authorCorresponding Author
Kiyoshi Hayasaka
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
Kiyoshi Hayasaka, M.D., Department of Pediatrics, Yamagata University School of Medicine, Iidanishi 2-2-2, Yamagata 990-9585, JapanSearch for more papers by this authorTohru Ikegami
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
Search for more papers by this authorChangqing Lin
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
Search for more papers by this authorMitsuhiro Kato
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
Search for more papers by this authorAiko Itoh
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
Search for more papers by this authorIkuya Nonaka
Division of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
Search for more papers by this authorMasayuki Kurimura
Third Department of Internal Medicine, Yamagata University School of Medicine, Yamagata, Japan
Search for more papers by this authorHisayuki Hirayabashi
Department of Neurology, Tokai University School of Medicine, Kanagawa, Japan
Search for more papers by this authorYukito Shinohara
Department of Neurology, Tokai University School of Medicine, Kanagawa, Japan
Search for more papers by this authorAtsuko Mochizuki
Department of Neurology, Teikyo University School of Medicine, Tokyo, Japan
Search for more papers by this authorCorresponding Author
Kiyoshi Hayasaka
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
Kiyoshi Hayasaka, M.D., Department of Pediatrics, Yamagata University School of Medicine, Iidanishi 2-2-2, Yamagata 990-9585, JapanSearch for more papers by this authorAbstract
DNA-based mutation analysis on the connexin 32 gene was performed in 49 families with Charcot-Marie-Tooth disease (CMT) type 1 but without duplication involving the chromosomal region, 17p12-p11.2. Mutations were identified in five of the 49 families, and four of the five mutations were hitherto undescribed: Val37Met, Glu57His, Arg142Glu, Val177Ala. X-linked CMT sometimes lacks evidence for X-linked transmission and cannot be differentiated from CMT type 2, especially in females with mildly decreased nerve conduction velocity. Therefore, molecular analysis is useful for molecular pathology of their disease. Am. J. Med. Genet. 80:352–355, 1998. © 1998 Wiley-Liss, Inc.
REFERENCES
- Bennett MV, Barrio LC, Bargiello TA, Spray DC, Hertzberg E, Saez JC (1991): Gap junctions: New tools, new answers, new questions. Neuron 6: 305–320.
- Bergoffen J, Scherer SS, Wang S, Scott MO, 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.
- Bone LJ, Deschenes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS (1997): Connexin32 and X-linked Charcot-Marie-Tooth disease. Neurobiol Dis 4: 221–230.
- Bird TD, Ott J, Giblett ER (1982): Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromsome 1. Am J Hum Genet 34: 388–394.
- Chance PF, Bird TD, O'Connell P, Lipe H, Lalouel JM, Leppert M (1990): Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). Am J Hum Genet 47: 915–925.
- Dyck PJ, Chance PF, Lebo R, Carney JA (1993): Hereditary motor and sensory neuropathies. In PJ Dyck (ed): “ Peripheral neuropathy.” Philadelphia: W.B. Saunders, pp 1094–1136.
- 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.
- Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF (1993): Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet 5: 31–34.
- Ionasescu VV, Ionasescu R, Searby C (1993): Screening of dominantly inherited Charcot-Marie-Tooth neuropathies. Muscle Nerve 16: 1232–1238.
- Ionasescu VV, Searby C, Ionasescu R, Neuhaus IM, Werner R (1996): Mutations of the noncoding region of the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 47: 541–544.
- Kulkens T, Bolhuis PA, Wolterman RA, Kemp S, te Nijenhuis S, Valentijn LJ, Hensels GW, Jennekens FG, de Visser M, Hoogendijk JE (1993): Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet 5: 35–39.
- 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.
- Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA (1991): DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66: 219–232.
- Omori Y, Mesnil M, Yamasaki H (1996): Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: Functional defects and dominant negative effects. Mol Biol Cell 7: 907–916.
- 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 Lett 351: 90–94.
- Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA (1991): Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). Neuromuscul Disord 1: 93–97.
- Seunghoon Oh, Ri Y, Bennett MV, Trexler EB, Verselis VK, Bargiello TA (1997): Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease. Neuron 19: 927–938.
- Skre H (1974): Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 6: 98–118.
- Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NH, Zorn I, Gabreels-Festen AW, de Visser M, Bolhuis PA (1992): Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet 2: 288–291.
- Vance JM, Nicholson GA, Yamaoka LH, Stajich J, Stewart CS, Speer MC, Hung WY, Roses AD, Barker D, Pericak-Vance MA (1989): Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol 104: 186–189.
-
Yoshimura T,
Ohnishi A,
Yamamoto T,
Fukushima Y,
Kitani M,
Kobayashi T
(1996):
Two novel mutations (C53S, S26L) in the connexin 32 of Charcot-Marie-Tooth disease type X families.
Hum Mut
8: 270–272.
10.1002/(SICI)1098-1004(1996)8:3<270::AID-HUMU12>3.0.CO;2-# CAS PubMed Web of Science® Google Scholar
