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

Neurogenetics. 2017 Jan;18(1):63-67. doi: 10.1007/s10048-016-0505-1. Epub 2016 Dec 22.


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.

Keywords: Charcot-Marie-Tooth disease; Inherited neuropathy; MTMR2; SBF1; SBF2; Whole-exome sequencing.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Atrophy / genetics
  • Axons / pathology
  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Cranial Nerve Diseases / genetics*
  • Cranial Nerve Diseases / pathology
  • Cranial Nerves / abnormalities
  • Cranial Nerves / pathology
  • Genes, Recessive
  • Hearing Loss / genetics
  • Hearing Loss / pathology
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Mutation, Missense*
  • Nervous System Malformations / genetics*
  • Pedigree
  • Siblings


  • Intracellular Signaling Peptides and Proteins
  • SBF1 protein, human