A novel homozygous nonsense variant in <i>COL12A1</i> causes myopathic Ehlers‐Danlos syndrome: A case report and literature review

Abstract

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. 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 Characteristic features in myopathic Ehlers-Danlos syndrome (mEDS) (A) Patient showing narrow high arch palate. (B) Sole showing finely wrinkled skin characteristic of EDS. (C) The patient in a supine position showing the frog sign denoting muscle hypotonia and funnel chest deformity. (D) Hyper laxity in toes. (E) Coronal T2WI on MRI showing severe scoliosis and kyphosis with convexity to the left. Figure S2 Genetic analysis and collagen XII and a schematic diagram of the collagen XII structure (A) Family tree showing parents of consanguineous marriages and the proband. (B) The electropherogram shows a homozygous variant, c.4240C > T (p.R1414*) in the COL12A1. The variant was heterozygous in both asymptomatic parents on Sanger sequencing data, (C) A schematic diagram of the collagen-XII structure (long isoform and short isoform) and the sites of the variant found in the current patient and previously reported patients. 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.