SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement
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DOI：
10.1007/s10048-016-0505-1
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发表时间：
2017-01-01
期刊：
影响因子：
2.2
通讯作者：
Houlden, Henry
中科院分区：
文献类型：
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作者：
Manole, Andreea;Horga, Alejandro;Houlden, Henry
SBF1基因双等位基因突变已在一个脱髓鞘性沙科-玛丽-图斯病（CMT4B3）家族和两个轴突神经病变以及其他神经和骨骼特征家族中被发现。在这里，我们描述了SBF1的新序列变异（c.1168C >g和c.2209_2210del）作为两个兄弟姐妹严重轴突神经病变，听力损失，面部虚弱和球特征的潜在致病突变。这些变异的致病性得到了共分离、硅分析和进化守恒的支持。我们的研究结果表明，除了CMT4B3外，SBF1突变还可能导致常染色体隐性轴突神经病变（AR-CMT2）的综合征形式。
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.