Department of Human Genetics, Ruhr University, Universitätsstrasse 150, 44801, Bochum, Germany.
Center for Rare Diseases Ruhr, Bochum, Germany.
Muscle Nerve. 2019 Apr;59(4):484-486. doi: 10.1002/mus.26394. Epub 2018 Dec 21.
Mutations in the BICD2 gene are causative for an autosomal dominant form of spinal muscular atrophy (SMALED2). Further, BICD2 mutations have been implicated in hereditary spastic paraplegia (HSP), but only very few such patients have been described. In this report we aimed to investigate the frequency of BICD2 mutations in patients with HSP and hereditary motor and sensory neuropathy (HMSN) who were negative for the most common known genetic causes.
The cohorts comprised 171 HSP and 189 HMSN patients. Mutational analysis was performed with high-resolution melting analysis followed by Sanger sequencing.
In both cohorts, we found no known or likely pathogenic mutations in the BICD2 gene.
BICD2 mutations appear rather unlikely to cause a phenotype of HMSN and are a very rare cause of the HSP phenotype. Muscle Nerve 59:484-486, 2019.
BICD2 基因突变可导致常染色体显性遗传型脊髓性肌萎缩症（SMALED2）。此外，BICD2 突变与遗传性痉挛性截瘫（HSP）有关，但仅有极少数此类患者被描述过。在本报告中，我们旨在研究 HSP 和遗传性运动感觉神经病（HMSN）患者中 BICD2 基因突变的频率，这些患者对最常见的已知遗传原因均呈阴性。
该队列包括 171 例 HSP 和 189 例 HMSN 患者。采用高分辨率熔解分析结合 Sanger 测序进行突变分析。
在两个队列中，我们均未发现 BICD2 基因中的已知或可能的致病性突变。
BICD2 突变似乎不太可能导致 HMSN 表型，并且是 HSP 表型的非常罕见原因。肌肉神经 59:484-486, 2019。
