case_images: PMC10512740_01
case_images: Clinical images of patient V-5 illustrating (A) broad forehead, (B) pterygium of the knee and hyperlordosis and (C) camptodactyly on the fingers.
case_images: fped-11-1132023-g001.jpg
case_images: PMC10512740_01_fped-11-1132023-g001.jpg
case_images: F1
case_images: The patient also had a broad forehead with no other facial dysmorphism (Figure 1). We also discovered other related cases in the same family (V-4, V-11, and V-12) who presented epilepsy (Supplementary Figure S1).
case_images: (A) Anteroposterior x-rays view showing the multiple vertebral defects and the "crab-like" aspect of the rib cage. (B) Lateral view showing the hyperlordosis and the fusion of the spinal processes.
case_images: fped-11-1132023-g002.jpg
case_images: PMC10512740_01_fped-11-1132023-g002.jpg
case_images: F2
case_images: There was no frontal deformity of the spine (Figure 2). Variant segregation analyses using Sanger sequencing showed that the parents were heterozygous for this variant (Supplementary Figure S2).
case_images: HPO network analysis of candidate modifier genes related to the patient phenotype suggesting the implication of SYNE2, ADCY6, and CAP2 in clinical manifestations.
case_images: fped-11-1132023-g003.jpg
case_images: PMC10512740_01_fped-11-1132023-g003.jpg
case_images: F3
case_images: The results indicated that each of SYNE2, ADCY6, and CAP2 genes seem to be implicated in the clinical manifestations such as muscle weakness, muscle atrophy, and reduced muscle reflexes by interacting with TPM2 (Figure 3).