Mutations in the HSPB1 gene are associated with Charcot‐Marie‐Tooth (CMT) disease type 2F (CMT2F) and distal hereditary motor neuropathy type 2 (dHMN2). More than 18 pathogenic mutations spanning across the whole HSPB1 gene have been reported. Three family members with a novel p.P57S (c.169C>T) HSPB1 mutation resulting in a late onset axonal neuropathy with heterogeneous clinical and electrophysiological features are detailed. We systematically reviewed published case reports and case series on HSPB1 mutations. While a genotype‐phenotype correlation was not obvious, we identified a common phenotype, which included adult onset, male predominance, motor more frequently than sensory involvement, distal and symmetric distribution with preferential involvement of plantar flexors, and a motor and axonal electrophysiological picture.

中文翻译：

---

与晚发 CMT2 表型相关的新型 HSPB1 突变：病例介绍和文献系统回顾。

HSPB1 基因突变与 2F 型腓骨肌萎缩症 (CMT) 病 (CMT2F) 和 2 型远端遗传性运动神经病 (dHMN2) 相关。据报道，整个 HSPB1 基因中存在超过 18 种致病性突变。详细介绍了三个具有新型 p.P57S (c.169C>T) HSPB1 突变的家族成员，该突变导致迟发性轴突神经病，具有异质的临床和电生理学特征。我们系统地回顾了已发表的有关 HSPB1 突变的病例报告和病例系列。虽然基因型-表型相关性并不明显，但我们发现了一种常见的表型，其中包括成人发病、男性占主导地位、运动受累频率高于感觉受累、远端和对称分布，优先受累跖屈肌，以及运动和轴突电生理图。