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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Abbreviations
- CMT:
-
Charcot-Marie-Tooth disease
- MAF:
-
Minor allele frequency
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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
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Informed consent was obtained from all individual participants included in the study. Additional informed consent was obtained from all individual participants for whom identifying information is included in this article.
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The authors declare that they have no conflict of interest.
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J.G. is the recipient of a grant from the Spanish Fondo de Investigaciones Sanitarias (FIS PI16/01673-FEDER).
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Andreea Manole and Alejandro Horga contributed equally to the study.
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Manole, A., Horga, A., Gamez, J. et al. SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. Neurogenetics 18, 63–67 (2017). https://doi.org/10.1007/s10048-016-0505-1
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DOI: https://doi.org/10.1007/s10048-016-0505-1