title: A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.
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.
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135‑710, Republic of Korea.
authors.forename: Young Bin
authors.initials: YB
authors.lastname: Hong
authors.affiliation: Department of Biological Science, Kongju National University, Gongju, South Chungcheong 314‑701, Republic of Korea.
authors.forename: Ja Hyun
authors.initials: JH
authors.lastname: Lee
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135‑710, Republic of Korea.
authors.forename: Hyung Jun
authors.initials: HJ
authors.lastname: Park
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135‑710, Republic of Korea.
authors.forename: Yu-Ri
authors.initials: YR
authors.lastname: Choi
authors.affiliation: Department of Biological Science, Kongju National University, Gongju, South Chungcheong 314‑701, Republic of Korea.
authors.forename: Young Se
authors.initials: YS
authors.lastname: Hyun
authors.affiliation: Department of Biological Science, Kongju National University, Gongju, South Chungcheong 314‑701, Republic of Korea.
authors.forename: Ji Hoon
authors.initials: JH
authors.lastname: Park
authors.affiliation: Department of Pathology, Ewha Womans University School of Medicine, Seoul 120‑750, Republic of Korea.
authors.forename: Heasoo
authors.initials: H
authors.lastname: Koo
authors.affiliation: Department of Biological Science, Kongju National University, Gongju, South Chungcheong 314‑701, Republic of Korea.
authors.forename: Ki Wha
authors.initials: KW
authors.lastname: Chung
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135‑710, Republic of Korea.
authors.forename: Byung-Ok
authors.initials: BO
authors.lastname: Choi
mesh_terms: D004252:DNA Mutational Analysis; D004576:Electromyography; D059472:Exome; D005684:Gait; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011115:Polyneuropathies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D013497:Sural Nerve / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D014404:Tubulin / Q000235:genetics*
chemical_list: C498585:TUBB3 protein, human; D014404:Tubulin