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SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement

Authors
  • Manole, Andreea1, 2
  • Horga, Alejandro1
  • Gamez, Josep3
  • Raguer, Nuria4
  • Salvado, Maria3
  • San Millán, Beatriz5
  • Navarro, Carmen5
  • Pittmann, Alan2
  • Reilly, Mary M.1
  • Houlden, Henry1, 2
  • 1 UCL Institute of Neurology, MRC Centre for Neuromuscular Diseases, Queen Square, London, UK , London (United Kingdom)
  • 2 UCL Institute of Neurology, Department of Molecular Neuroscience, Queen Square, London, UK , London (United Kingdom)
  • 3 Hospital Universitari Vall d’Hebron and Universitat Autònoma de Barcelona, VHIR, Neuromuscular Disorders Unit, Department of Neurology, Passeig Vall d’Hebron, 119–135, Barcelona, 08035, Spain , Barcelona (Spain)
  • 4 Hospital Universitari Vall d’Hebron and Universitat Autònoma de Barcelona, VHIR, Department of Neurophysiology, Barcelona, Spain , Barcelona (Spain)
  • 5 Complejo Hospitalario Universitario de Vigo, Department of Neuropathology, Vigo, Spain , Vigo (Spain)
Type
Published Article
Journal
Neurogenetics
Publisher
Springer-Verlag
Publication Date
Dec 22, 2016
Volume
18
Issue
1
Pages
63–67
Identifiers
DOI: 10.1007/s10048-016-0505-1
Source
Springer Nature
Keywords
License
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Abstract

Biallelic mutations in the SBF1 gene have been identified in one family with demyelinating Charcot-Marie-Tooth disease (CMT4B3) and two families with axonal neuropathy and additional neurological and skeletal features. Here we describe novel sequence variants in SBF1 (c.1168C>G and c.2209_2210del) as the potential causative mutations in two siblings with severe axonal neuropathy, hearing loss, facial weakness and bulbar features. Pathogenicity of these variants is supported by co-segregation and in silico analyses and evolutionary conservation. Our findings suggest that SBF1 mutations may cause a syndromic form of autosomal recessive axonal neuropathy (AR-CMT2) in addition to CMT4B3.

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