Recurrent FLNA p.Gly1554Arg Variant Associated With Familial Ebstein Anomaly and Joint Stiffness

The authors declare no conflicts of interest. The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions. Figure S1. (A) Integrated Genome Viewer image of the filamin A (FLNA) variant detected by trio exome sequencing. Variant allele frequency (VAF) were indicated. (B) X-inactivation pattern in the human androgen-receptor (HUMURA) gene and retinitis pigmentosa 2 (RP2) promotor by a methylation-sensitive PCR-based assay with HpaII and HhaI digestion of genomic DNA from the proband’s mother and maternal grandmother. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.