Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome
Figure 2
Schematic representation of duplications and deletions identified in patients with AEXS. (a) the tandem duplication of families A and B [4]. Genome: the duplication (yellow boxes) includes seven of the 11 noncoding exons 1 of CYP19A1. mRNA: the sequence of a rare transcript is shown. The 3′-end of exon I.4 is connected with the 5′-end of exon I.8. (b) The deletion of family C [4]. Genome: the deletion (a gray area) includes exons 2–43 of DMXL2 and exons 5–10 of GLDN. mRNA: The sequence of a rare chimeric gene transcript is shown. DMXL2 exon 1 consisting of a noncoding region and a coding region is spliced onto the common acceptor site of CYP19A1 exon 2. (c) The deletion of families D–F [4]. Genome: the deletion (a gray area) includes exons 2–43 of DMXL2. mRNA: the sequence of a rare chimeric gene transcript is delineated. The mRNA structure is the same as that detected in family C.
