The bicaudal D cargo adaptor 2 (BICD2) gene encodes a conserved cargo adaptor protein required for dynein‐mediated transport. Inherited and de novo variants in BICD2 cause SMALED2 (spinal muscular atrophy lower extremity dominant 2), and a subset have recently been reported to cause severe, often lethal disease. However, a true genotype–phenotype correlation for BICD2 has not been performed, and cases described to date are scattered among at least 14 publications. In this review, we identify the characteristics of disease‐causing variants in BICD2 that distinguish them from benign variation and perform genotype–phenotype correlations for 99 BICD2 variant carriers from 35 families. ANN NEUROL 2020;87:487–496

中文翻译：

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脊髓性肌萎缩症中 BICD2 变异体的基因型和表型谱

双尾 D 货物接头 2 (BICD2) 基因编码动力蛋白介导的运输所需的保守货物接头蛋白。BICD2 中的遗传性和从头变异导致 SMALED2（下肢显性脊髓性肌萎缩 2），最近有报道称其中一个子集会导致严重的、通常是致命的疾病。然而，尚未对 BICD2 进行真正的基因型-表型关联，迄今为止描述的病例分散在至少 14 篇出版物中。在这篇综述中，我们确定了 BICD2 中致病变异的特征，这些特征将它们与良性变异区分开来，并对来自 35 个家族的 99 个 BICD2 变异携带者进行基因型-表型相关。神经网络 2020;87:487–496