A family with axonal sensorimotor polyneuropathy with TUBB3 mutation

  • Authors:
    • Young Bin Hong
    • Ja Hyun Lee
    • Hyung Jun Park
    • Yu‑Ri Choi
    • Young Se Hyun
    • Ji Hoon Park
    • Heasoo Koo
    • Ki Wha Chung
    • Byung‑Ok Choi
  • View Affiliations

  • Published online on: December 4, 2014     https://doi.org/10.3892/mmr.2014.3047
  • Pages: 2729-2734
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Abstract

Mutations in the β‑tubulin isotype III (TUBB3) gene result in TUBB3 syndrome that includes congenital fibrosis of the extraocular muscle type 3 (CFEOM3), intellectual impairments and/or an axonal sensorimotor neuropathy. In the present study, a TUBB3 D417N mutation was identified in a family with axonal sensorimotor polyneuropathy by whole exome sequencing. The proband exhibited gait disturbance at the age of 12 years and was wheelchair bound at 40 years. However, the proband's cousin exhibited gait disabilities at 45 years of age and was still able to walk when he was 60 years old. Ophthalmoplegia and intellectual impairment were not observed in either patient. A sural nerve biopsy identified an absence of large myelinated fibers without demyelinating degeneration. Based on these clinical features, the two patients exhibited an axonal peripheral neuropathy without CFEOM3. These results therefore suggested that certain TUBB3 mutations may predominantly be associated with axonal peripheral neuropathy. Furthermore, the results also suggested that TUBB3 mutations may be implicated in modulating the inter‑ and intra‑familial heterogeneity of clinical phenotypes.
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April-2015
Volume 11 Issue 4

Print ISSN: 1791-2997
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Spandidos Publications style
Hong YB, Lee JH, Park HJ, Choi YR, Hyun YS, Park JH, Koo H, Chung KW and Choi BO: A family with axonal sensorimotor polyneuropathy with TUBB3 mutation. Mol Med Rep 11: 2729-2734, 2015.
APA
Hong, Y.B., Lee, J.H., Park, H.J., Choi, Y., Hyun, Y.S., Park, J.H. ... Choi, B. (2015). A family with axonal sensorimotor polyneuropathy with TUBB3 mutation. Molecular Medicine Reports, 11, 2729-2734. https://doi.org/10.3892/mmr.2014.3047
MLA
Hong, Y. B., Lee, J. H., Park, H. J., Choi, Y., Hyun, Y. S., Park, J. H., Koo, H., Chung, K. W., Choi, B."A family with axonal sensorimotor polyneuropathy with TUBB3 mutation". Molecular Medicine Reports 11.4 (2015): 2729-2734.
Chicago
Hong, Y. B., Lee, J. H., Park, H. J., Choi, Y., Hyun, Y. S., Park, J. H., Koo, H., Chung, K. W., Choi, B."A family with axonal sensorimotor polyneuropathy with TUBB3 mutation". Molecular Medicine Reports 11, no. 4 (2015): 2729-2734. https://doi.org/10.3892/mmr.2014.3047