case_images: PMC10982358_01
case_images: Imaging of the affected lower limbs in the proband. The primary clinical manifestations in the patient manifest as clubfoot and distal muscle atrophy in the legs.
case_images: fped-12-1327742-g001.jpg
case_images: PMC10982358_01_fped-12-1327742-g001.jpg
case_images: F1
case_images: Postnatally, the lower limbs exhibited deformities with symptomatic clubfoot (Figure 1). In addition, muscle MRI analysis of the patient's father revealed no significant abnormalities in the morphology and signals of the bilateral thigh muscle groups (Supplementary Figure S1).
case_images: Computed radiography (CR) images of the proband's lower limbs. The patient's lower limbs exhibit pelvic tilt, bilateral knee joint valgus, and bilateral clubfoot.
case_images: fped-12-1327742-g002.jpg
case_images: PMC10982358_01_fped-12-1327742-g002.jpg
case_images: F2
case_images: The bone structures of the bilateral femurs, tibias and fibulas, as well as the hip joints, showed no apparent abnormalities (Figure 2).
case_images: Sanger sequencing of the TRPV4 gene locus in the proband and the proband's parents. The proband (A) exhibits a heterozygous mutation in the TRPV4 gene at position c.805C>T (indicated by the arrow), inherited from the proband's father (B) (indicated by the arrow); The proband's mother does not harbor this mutation (C).
case_images: fped-12-1327742-g003.jpg
case_images: PMC10982358_01_fped-12-1327742-g003.jpg
case_images: F3
case_images: This mutation was inherited from the father, who, despite being phenotypically asymptomatic, is presumed to be a non-manifesting carrier. To validate this finding, Sanger sequencing was performed, confirming once again that the mutation was inherited from the father (Figure 3).