Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease
Journal article, Peer reviewed
© 2007 braathen et al; licensee bio med central ltd. this is an open access article distributed under the terms of the creative commons attribution license (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
MetadataShow full item record
Original versionBraathen, G. J., Sand, J. C., Bukholm, G., & Russell, M. B. (2007). Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease. BMC neurology, 7(1), 1.
Background X-linked Charcot-Marie Tooth (CMT) is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap junctions. Methods We describe two novel mutations in the connexin32 gene in two Norwegian families. Results Family 1 had a c.225delG (R75fsX83) which causes a frameshift and premature stop codon at position 247. This probably results in a shorter non-functional protein structure. Affected individuals had an early age at onset usually in the first decade. The symptoms were more severe in men than women. All had severe muscle weakness in the legs. Several abortions were observed in this family. Family 2 had a c.536 G>A (C179Y) transition which causes a change of the highly conserved cysteine residue, i.e. disruption of at least one of three disulfide bridges. The mean age at onset was in the first decade. Muscle wasting was severe and correlated with muscle weakness in legs. The men and one woman also had symptom from their hands. The neuropathy is demyelinating and the nerve conduction velocities were in the intermediate range (25–49 m/s). Affected individuals had symmetrical clinical findings, while the neurophysiology revealed minor asymmetrical findings in nerve conduction velocity in 6 of 10 affected individuals. Conclusion The two novel mutations in the connexin32 gene are more severe than the majority of previously described mutations possibly due to the severe structural change of the gap junction they encode.
Showing items related by title, author, creator and subject.
Vang, Veronica Okkenhaug (Master thesis, 2012)WRAP53 partly overlaps the neighboring gene TP53 in a head-to-head fashion. The WRAP53α isoform was identified as a natural antisense transcript to TP53, possessing regulatory functions involved in the induction of cellular ...
Due, Eldri Undlien (Master thesis, 2013)
The Molecular Structure of Hexamethyldigermane Determined by Gas-Phase Electron Diffraction with Theoretical Calculations for (CH3)(3)M-M(CH3)(3) Where M = C, Si, and Ge Aarset, Kirsten; Page, Elizabeth M.; Rice, David A. (Journal of Physical Chemistry A;114 (26), Journal article; Peer reviewed, 2010-06-11)Gas-phase electron diffraction (GED) data together with results from ab initio molecular orbital calculations (HF and MP2/6-311+G(d,p)) have been used to determine the structure of hexamethyldigermane ((CH3)3Ge−Ge(CH3)3). ...