Figure 3.

Published mutations in the BGN gene. (A) The location of Biglycan gene at the end of the long (q) arm of the human X chromosome. (B) Location of the current known deletions of the gene that cause Meester-Loeys syndrome. (C) High magnification of the exons of BGN illustrating the specific pathogenic variants found in human patients suffering from Meester-Loeys syndrome (in red) and X-linked spondyloepimetaphyseal dysplasia (in green). Abbreviations: BGN, Biglycan; LRR, leucine-rich repeat; MRLS, Meester-Loeys syndrome; SEMDX, spondyloepimetaphyseal dysplasia.