Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)
- PMID: 10102421
- DOI: 10.1212/wnl.52.5.1010
Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)
Erratum in
- Neurology 1999 Jun 10;52(9):1952
Abstract
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.
Similar articles
-
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.Neurology. 1998 Apr;50(4):1074-82. doi: 10.1212/wnl.50.4.1074. Neurology. 1998. PMID: 9566397
-
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.Brain. 2001 Oct;124(Pt 10):1958-67. doi: 10.1093/brain/124.10.1958. Brain. 2001. PMID: 11571214
-
Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.Neurology. 1998 Nov;51(5):1412-6. doi: 10.1212/wnl.51.5.1412. Neurology. 1998. PMID: 9818870
-
Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease.Brain Res Brain Res Rev. 2000 Apr;32(1):203-14. doi: 10.1016/s0165-0173(99)00082-x. Brain Res Brain Res Rev. 2000. PMID: 10751671 Review.
-
Connexin channels in Schwann cells and the development of the X-linked form of Charcot-Marie-Tooth disease.Brain Res Brain Res Rev. 2000 Apr;32(1):192-202. doi: 10.1016/s0165-0173(99)00081-8. Brain Res Brain Res Rev. 2000. PMID: 10751670 Review.
Cited by
-
Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.Neuromolecular Med. 2006;8(1-2):243-54. doi: 10.1385/nmm:8:1-2:243. Neuromolecular Med. 2006. PMID: 16775379 Review.
-
Episodic neurological dysfunction in hereditary peripheral neuropathy.Ann Indian Acad Neurol. 2015 Jan-Mar;18(1):111-4. doi: 10.4103/0972-2327.144314. Ann Indian Acad Neurol. 2015. PMID: 25745327 Free PMC article.
-
Gap junctions in inherited human disorders of the central nervous system.Biochim Biophys Acta. 2012 Aug;1818(8):2030-47. doi: 10.1016/j.bbamem.2011.08.015. Epub 2011 Aug 16. Biochim Biophys Acta. 2012. PMID: 21871435 Free PMC article. Review.
-
Connexin Mutations and Hereditary Diseases.Int J Mol Sci. 2022 Apr 12;23(8):4255. doi: 10.3390/ijms23084255. Int J Mol Sci. 2022. PMID: 35457072 Free PMC article. Review.
-
Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.Sci Rep. 2017 Jan 10;7:40166. doi: 10.1038/srep40166. Sci Rep. 2017. PMID: 28071741 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
