Journal of Genetic Disorders and Genetic Medicine

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A rare case of scapular winging due to a novel trpv4 mutation

Author(s): Kristin A Brown and Thy P Nguyen*

Hereditary scapular winging is an important clue for neuromuscular differential diagnosis. We report a case of a family with a novel phenotype of isolated scapular winging due to a mutation in Transient Receptor Potential Vallinoid 4 (TRPV4). We believe this report may broaden the differential diagnosis of patients with scapular winging. Phenotypes associated with mutations in this gene have been previously described and are known to vary markedly. It has been previously reported that mutations in this gene are associated with Charcot Marie Tooth disease 2C (CMT 2C), scapuloperoneal spinal muscular atrophy and congenital distal spinal atrophy as well as various skeletal dysplasias. Associated features include hearing loss, vocal cord paresis and pes cavus. To our knowledge, this is the first reported case of isolated scapular winging associated with TRPV4 mutation.


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