Abstract

POSADA-BERNAL, David  and  MORENO-GIRALDO, Lina Johanna. Reclassification of TRPV4 gene variant in a patient with skeletal dysplasia: case report. Medicas UIS [online]. 2024, vol.37, n.1, pp.111-119.  Epub Mar 30, 2024. ISSN 0121-0319.  https://doi.org/10.18273/revmed.v37n1-2024009.

Skeletal dysplasias are alterations in bone and cartilage growth with a wide clinical and radiological spectrum, whose prevalence is 2 to 5 cases per 10 000 newborns. The case of a 9-year-old male patient with asymmetrical short stature, normal neurodevelopment, without musculoskeletal deformities and relatives with unexplored short stature is presented. Skeletal dysplasia was diagnosed; however, in the presence of normal paraclinical studies, a molecular study was indicated that revealed a new variant of uncertain significance in the TRVP4 gene. Subsequently, with the use of databases and bioinformatics, it was reclassified as likely pathogenic. In subsequent assessments, it was determined that there was no specific management and, given the absence of complications amenable to therapy, clinical follow-up was indicated. The importance of reanalysis of molecular studies and bioinformatic strengthening that facilitates timely diagnosis is highlighted, allowing the application of detection, monitoring and treatment strategies.

Keywords : TRPV Cation Channels; Bone Diseases; Developmental; Sequence Analysis; DNA.

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