A family with axonal sensorimotor polyneuropathy with TUBB3 mutation

作者：Hong Young Bin; Lee Ja Hyun; Park Hyung Jun; Choi Yu Ri; Hyun Young Se; Park Ji Hoon; Koo Heasoo; Chung Ki Wha; Choi Byung Ok^*

来源：Molecular Medicine Reports, 2015, 11(4): 2729-2734.

DOI：10.3892/mmr.2014.3047

• axonal sensorimotor polyneuropathy
• -tubulin isotype III
• congenital fibrosis of the extraocular muscle type 3
• whole exome sequencing

Mutations in the -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.

• 出版日期2015-4