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.
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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 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: | https://discovery.ucl.ac.uk/id/eprint/10052255 |
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