Anti-Müllerian Hormone: A Valuable Addition to the Toolbox of the Pediatric Endocrinologist

Figure 6

Mutations of the AMH gene in PMDS. Exons are shaded. All recurrent mutations are indicated in red. Missense mutations are in yellow boxes; note that the first mutation destroys the translation initiation site. Asterisks represent splice mutations; the red asterisk at the beginning of the second intron indicates a mutation detected in three different families all from Northern Europe. Deletions (marked “d”) are in green boxes, insertions (marked “+”) are in blue boxes, and nonsense mutations are in white boxes. A deletion mutation in the promoter is shown. C-terminal: coding for bioactive C-terminal domain of the AMH molecule. Base numbering is from major transcription initiation site, −10 bp from A of ATG.