TRPV4, a nonselective calcium permeable ion channel, is expressed broadly in many organs including bone and neurons. Pathogenic variants in TRPV4 are known to cause both a spectrum of skeletal dysplasias and neuropathies. Recent publications have documented a few patients who have a combined phenotype of skeletal dysplasia and neuropathy secondary to TRPV4 pathogenic variants. We present an additional patient who has an overlapping neuromuscular and skeletal phenotype secondary to a TRPV4 pathogenic variant. The patient has spondylometaphyseal dysplasia-Kozlowski type and Charcot-Marie-Tooth disease type 2C. This and prior reports illustrate that TRPV4-related skeletal dysplasias and TRPV4-related neuropathies are not fully distinct disorders secondary to unique sets of pathogenic variants as originally postulated, but rather are 2 phenotypes on the same spectrum that may or may not overlap. We suggest that evaluation for patients presenting with any TRPV4-related disorder include assessment for both skeletal and neurological findings.

中文翻译：

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继发于TRPV4致病变异的脊椎后凸发育不良-Kozlowski型和夏科-玛丽齿病2C型联合表型。

TRPV4是一种非选择性的钙可渗透离子通道，在包括骨骼和神经元在内的许多器官中广泛表达。已知TRPV4中的致病变异会引起一系列的骨骼发育异常和神经病变。最近的出版物记录了一些患者，这些患者的骨骼发育异常表型和继发于TRPV4致病变异的神经病变。我们介绍了另一名患者，其继发于TRPV4致病变异的神经肌肉和骨骼表型重叠。该患者患有脊椎干phy端发育异常-Kozlowski型和Charcot-Marie-Tooth病2C型。此报告和先前的报告表明，与TRPV4相关的骨骼发育异常和TRPV4相关的神经病变并非完全不同于继发于最初假定的独特病原体集的继发疾病，而是同一频谱上可能重叠或不重叠的2个表型。我们建议对患有任何TRPV4相关疾病的患者进行评估，包括对骨骼和神经系统检查结果进行评估。