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

Manole, A; Horga, A; Gamez, J; Raguer, N; Salvado, M; San Millan, B; Navarro, C; ... Houlden, H; + view all (2016) SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. Neurogenetics , 18 (1) pp. 63-67. 10.1007/s10048-016-0505-1. Green open access

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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.

Type: Article
Title: SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/s10048-016-0505-1
Publisher version: https://doi.org/10.1007/s10048-016-0505-1
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Clinical Neurology, Neurosciences & Neurology, Charcot-Marie-Tooth disease, Inherited neuropathy, MTMR2, SBF1, SBF2, Whole-exome sequencing, DISEASE TYPE 4B3, ONSET GLAUCOMA, PHOSPHATASES, FAMILY, GENE, FORM
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/10052255
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