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

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• 作者：Andreea Manole ; Alejandro Horga ; Josep Gamez ; Nuria Raguer ; Maria Salvado…
• 关键词：Charcot ; Marie ; Tooth disease ; Inherited neuropathy ; MTMR2 ; SBF1 ; SBF2 ; Whole ; exome sequencing
• 刊名：neurogenetics
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：18
• 期：1
• 页码：63-67
• 全文大小：
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Neurosciences; Human Genetics; Molecular Medicine;
• 出版者：Springer Berlin Heidelberg
• ISSN：1364-6753
• 卷排序：18

文摘

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.