Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Stojkovic, T.
Right arrow Articles by Vermersch, P.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Stojkovic, T.
Right arrow Articles by Vermersch, P.
Neurology 1999;52:1010
© 1999 American Academy of Neurology
Articles

Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)

T. Stojkovic, MD, P. Latour, MD, A. Vandenberghe, PhD, J. F. Hurtevent, MD and P. Vermersch, MD, PhD

From the Department of Neurology (Drs. Stojkovic, Hurtevent, and Vermersch), University of Lille; and the Laboratory for Neurogenetics (Drs. Latour and Vandenberghe) Antiquaille Hospital, Lyon, France.

Address correspondence and reprint requests to Dr. Tanya Stojkovic, CHRU de Lille, Service de Neurologie du Pr. Vermersch, Rue du 8 Mai 1945, 59037 Lille Cedex, France; e-mail: t-stojkovic{at}chru-lille.fr

OBJECTIVE: To report a family with X-linked Charcot-Marie-Tooth disease (CMTX) with proven connexin 32 (Cx32) mutation associated with deafness.

METHODS: Twelve members of a CMTX family were examined clinically. Electromyography and sensory and motor conduction studies were performed in three men, two women, and a 7-year-old boy. Audiometric testing was carried out in the three men, one woman, and an 8-year-old girl. Molecular genetic analysis was performed in six men and five women.

RESULTS: The three men and the 7-year-old boy had the usual sensorimotor deficit and pronounced reduction of motor nerve conduction velocity. A 15-year-old boy was asymptomatic and had only areflexia. The women had impairment of vibratory sensation and slight slowing of nerve conduction velocities. Sensorineural deafness was observed in the three men and in an 8-year-old girl without any motor or sensory deficit. Molecular genetic analysis revealed a new missense mutation located in codon 142 of the Cx32 gene leading to the substitution of an arginine by a glutamine.

CONCLUSION: CMTX due to Cx32 mutations often shows interfamilial and intrafamilial phenotypic variation, which is also the hallmark of this family. The sensorineural deafness observed in this family suggests that Cx32 could play an important role in the auditory pathway.




This article has been cited by other articles:


Home page
 DMMHome page
K. Dutton, L. Abbas, J. Spencer, C. Brannon, C. Mowbray, M. Nikaido, R. N. Kelsh, and T. T. Whitfield
A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicle
Dis. Model. Mech., January 1, 2009; 2(1-2): 68 - 83.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Physiol. Cell Physiol.Home page
F. Lang, V. Vallon, M. Knipper, and P. Wangemann
Functional significance of channels and transporters expressed in the inner ear and kidney
Am J Physiol Cell Physiol, October 1, 2007; 293(4): C1187 - C1208.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
K. A. Kleopa, E. Zamba-Papanicolaou, X. Alevra, P. Nicolaou, D. -M. Georgiou, A. Hadjisavvas, T. Kyriakides, and K. Christodoulou
Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X
Neurology, February 14, 2006; 66(3): 396 - 402.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
H. -J. Kim, S. H. Hong, C. -S. Ki, B. -J. Kim, J. -S. Shim, S. -H. Cho, J. -H. Park, and J. -W. Kim
A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24
Neurology, June 14, 2005; 64(11): 1964 - 1967.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
A. Starr, H. J. Michalewski, F.-G. Zeng, S. Fujikawa-Brooks, F. Linthicum, C. S. Kim, D. Winnier, and B. Keats
Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145->Ser)
Brain, July 1, 2003; 126(7): 1604 - 1619.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
N. Birouk, H. Azzedine, O. Dubourg, M.-P. Muriel, A. Benomar, T. Hamadouche, T. Maisonobe, R. Ouazzani, A. Brice, M. Yahyaoui, et al.
Phenotypical Features of a Moroccan Family With Autosomal Recessive Charcot-Marie-Tooth Disease Associated With the S194X Mutation in the GDAP1 Gene
Arch Neurol, April 1, 2003; 60(4): 598 - 604.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
N. Sambuughin, A. de Bantel, S. McWilliams, and K. Sivakumar
Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene
Neurology, February 11, 2003; 60(3): 506 - 508.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
H.J. Schelhaas, B.G.M. van Engelen, A.A.W.M. Gabreels-Festen, G. Hageman, J.H.R. Vliegen, M.S. van der Knaap, and M.J. Zwarts
Transient cerebral white matter lesions in a patient with connexin 32 missense mutation
Neurology, December 24, 2002; 59(12): 2007 - 2008.
[Full Text] [PDF]

Home page
 J. Neurol. Neurosurg. PsychiatryHome page
M McEntagart, M Dunstan, C Bell, E Boltshauser, M Donaghy, P S Harper, N Williams, M D Teare, and N Rahman
Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness
J. Neurol. Neurosurg. Psychiatry, December 1, 2002; 73(6): 762 - 765.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
N. Bondurand, M. Girard, V. Pingault, N. Lemort, O. Dubourg, and M. Goossens
Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10
Hum. Mol. Genet., November 1, 2001; 10(24): 2783 - 2795.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
F. M. Hisama, H. H. Lee, A. Vashlishan, P. Tekumalla, D. S. Russell, E. Auld, and J. M. Goldstein
Clinical and Molecular Studies in a Family With Probable X-linked Dominant Charcot-Marie-Tooth Disease Involving the Central Nervous System
Arch Neurol, November 1, 2001; 58(11): 1891 - 1896.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
O. Dubourg, S. Tardieu, N. Birouk, R. Gouider, J. M. Leger, T. Maisonobe, A. Brice, P. Bouche, and E. LeGuern
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease
Brain, October 1, 2001; 124(10): 1958 - 1967.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
N. Lopez-Bigas, M. Olive, R. Rabionet, O. Ben-David, J. A. Martinez-Matos, O. Bravo, I. Banchs, V. Volpini, P. Gasparini, K. B. Avraham, et al.
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
Hum. Mol. Genet., April 1, 2001; 10(9): 947 - 952.
[Abstract] [Full Text] [PDF]

Home page
 J. Physiol.Home page
L. Lagostena, J. F Ashmore, B. Kachar, and F. Mammano
Purinergic control of intercellular communication between Hensen's cells of the guinea-pig cochlea
J. Physiol., March 15, 2001; 531(3): 693 - 706.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
X.-Z. Liu, X. J. Xia, L. R. Xu, A. Pandya, C. Y. Liang, S. H. Blanton, S. D.M. Brown, K. P. Steel, and W. E. Nance
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss
Hum. Mol. Genet., January 1, 2000; 9(1): 63 - 67.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1999 by AAN Enterprises, Inc.