Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a < b > < i > TRPV4 < /i > < /b > Pathogenic Variant

We present an additional patient who has an overlapping neuromuscular and skeletal phenotype secondary to aTRPV4 pathogenic variant. The patient has spondylometaphyseal dysplasia-Kozlowski type and Charcot-Marie-Tooth disease type 2C. This and prior reports illustrate thatTRPV4-related skeletal dysplasias andTRPV4-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 anyTRPV4-related disorder include assessment for both skeletal and neurological findings.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research